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
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema OMIM:130700
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphosis, Supernumerary vertebral ossification centers... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchie... OMIM:604571
Chondrocalcinosis Due To Apatite Crystal Deposition
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... OMIM:118610
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog... ORPHA:70589
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Atelectasis, Chronic sinusitis, Bronchiectasis, Recurrent respirat... OMIM:253240
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... OMIM:613686
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... OMIM:122600
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Allergic Bronchopulmonary Aspergillosis
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... ORPHA:1164
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Cervical Rib
Cervical ribs OMIM:117900
Pulmonary Blastoma
Pulmonary infiltrates, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea ORPHA:64741
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, ... OMIM:615294
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Wheezing, C... OMIM:613490
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Plasmacytosis, Ground-glass opacification, Cough, Dyspnea ORPHA:60026
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Atelect... OMIM:615067
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid lymphocyte proportio... OMIM:612387
Ciliary Dyskinesia, Primary, 29
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Ciliary Dyskinesia, Primary, 33
Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Atelectasis, Recurrent bro... OMIM:616726
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... ORPHA:3268
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... OMIM:173800
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Atelectasis, Bronchie... OMIM:619466
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Abnormal re... ORPHA:922
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Tracheobronchopathia Osteochondroplastica
Abnormal tracheobronchial morphology, Respiratory insufficiency, Wheezing, Calcification of carti... ORPHA:3348
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Bell-shaped thorax... OMIM:611702
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... ORPHA:1797
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Alpha-1-Antitrypsin Deficiency
Hepatitis, Emphysema ORPHA:60
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema OMIM:618307
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Irregular capital femoral epiphysis, Broa... OMIM:609052
Spondylometaphyseal Dysplasia, Corner Fracture Type
Coxa vara, Metaphyseal irregularity, Scoliosis, Short femoral neck, Genu varum, Pectus carinatum,... OMIM:184255
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Recurrent bronchitis, Chronic sinusitis, Otitis media OMIM:300455
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Abnormal eosinophil morphology, Respiratory insufficiency, Abnormal pleura... ORPHA:724
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Recurrent bronchopulmonary infections, Lymphopenia, Pyoderma, Aplasia of t... OMIM:242700
Becker Nevus Syndrome
Rib fusion, Kyphosis, Pectus excavatum, Scoliosis, Abnormality of tibia morphology, Pectus carina... ORPHA:64755
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Recurrent u... ORPHA:60032
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Ground-glass opacification, Respiratory fa... ORPHA:2302
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Bronchiectasis, Reduced FEV1/FVC ratio, Airway ob... ORPHA:1303
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... ORPHA:2790
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Atelectasis, Neonatal respiratory distress, Dys... OMIM:267450
Sprengel Deformity
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... OMIM:184400
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Abnormal ... ORPHA:1354
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Short palm, Platyspondyly, Flared, irregular rib ends ORPHA:168555
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Leukocytosis, Nonproductive cough, Atopic dermatitis, Crackles, Parenchymal consolidation... ORPHA:2902
Immunodeficiency 95
Respiratory distress, Lymphopenia, Ground-glass opacification, Recurrent viral upper respiratory ... OMIM:619773
Mounier-Kühn Syndrome
Recurrent bronchopulmonary infections, Tracheobronchmegaly, Bronchitis, Tracheal stenosis, Pneumo... ORPHA:3347
Acute Interstitial Pneumonia
Interlobular septal thickening, Pulmonary infiltrates, Subpleural honeycombing, Nodular pattern o... ORPHA:79126
Thoracolaryngopelvic Dysplasia
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... OMIM:187760
Kyphomelic Dysplasia
Narrow chest, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebral bodies, Short t... ORPHA:1801
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Atelectasis, Abnormal pulmonary ... ORPHA:70588
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Platyspondyly, Short thorax, Abnormal metaphysis morp... ORPHA:93304
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of the... ORPHA:1988
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... ORPHA:1836
Idiopathic Pulmonary Fibrosis
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,... ORPHA:2032
Hypophosphatasia
Anemia, Respiratory insufficiency, Emphysema ORPHA:436
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Ground-glass opacification, Elev... OMIM:619611
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Chronic otitis media, Cough, Chronic rhinitis, Recurrent sinusitis, Chron... OMIM:612444
Idiopathic Achalasia
Wheezing, Bronchitis, Recurrent aspiration pneumonia, Cough ORPHA:930
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Respiratory insufficiency, Bilateral lung agenesis, Neonatal death OMIM:601612
Jung Syndrome
Abnormal form of the vertebral bodies, Hypothyroidism, Telecanthus, Tracheal stenosis, Recurrent ... ORPHA:2321
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Tachypnea, Atelectasis, Respiratory tract infection, Pneumonia, Hypoxemia, Respi... ORPHA:70587
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Recurrent upper respirat... OMIM:618806
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Pulmonary fibrosis, Emphysema, Decreased DLCO OMIM:618913
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... OMIM:617405
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... OMIM:156530
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Pulmonary infiltrates, Hypoxemia, ... OMIM:610978
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Rib fusion, Kyphosis, Camptodactyly of finger, Short neck, Scolios... ORPHA:2311
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187601
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Chronic otitis media, Chronic rhinitis, Atelectasis, Recurrent bronchitis, Cilia... OMIM:244400
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Iron deficiency anemia, Transient... OMIM:178550
Metatropic Dysplasia
Narrow chest, Kyphosis, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Camptodactyly of f... ORPHA:2635
Immunodeficiency 13
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf... OMIM:615518
Combined Immunodeficiency, X-Linked
Sinusitis, Otitis media, Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Decr... OMIM:312863
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Atopic dermatitis, Eosinophilia, Pneumonia OMIM:617638
Immunodeficiency 89 And Autoimmunity
Asthma, Crohn's disease, Pleural thickening, Hypochromic microcytic anemia, Recurrent lower respi... OMIM:619632
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Lumbar hyperlordosis, Flat capital femoral epiphysis, Platyspondyl... OMIM:609223
Acromesomelic Dysplasia, Maroteaux Type
Sprengel anomaly, Kyphosis, Beaking of vertebral bodies, Brachydactyly, Scoliosis, Abnormal form ... ORPHA:40
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Proportionate short stature, Cervical vertebral dysplasia, Feeding difficultie... ORPHA:79345
Bronchogenic Cyst
Abnormal pleura morphology, Cough, Atelectasis, Abnormal pulmonary thoracic imaging finding, Pneu... ORPHA:2357
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
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
Tracheal Agenesis
Tracheal atresia, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:3346
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... OMIM:102510
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Recurrent otitis media, Chronic otitis med... ORPHA:244
Immunodeficiency 104
Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candidiasis, Pneumon... OMIM:608971
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Abnormal central microtubular pair morphology of respiratory motile cilia, Ch... OMIM:612649
Ciliary Dyskinesia, Primary, 28
Dynein arm defect of respiratory motile cilia, Recurrent otitis media, Respiratory insufficiency ... OMIM:615505
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Abnormal rib cage morphology, Hemivertebrae, Posterior rib fusion, Preaxial han... OMIM:608406
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Diffuse reticular or finely nodular infiltrations, Splenomegaly, Abnormal... OMIM:607616
Brachyolmia, Maroteaux Type
Pectus excavatum, Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies, Short thorax ORPHA:93302
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Surfactant Metabolism Dysfunction, Pulmonary, 5
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... OMIM:614370
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... OMIM:618781
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Common Variable Immunodeficiency
Lymphopenia, Otitis media, Splenomegaly, Autoimmune thrombocytopenia, Chronic otitis media, Hemol... ORPHA:1572
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, Autoimmune hemolytic anemia OMIM:247800
Pendred Syndrome
Sensorineural hearing impairment, Thyroid carcinoma, Goiter, Respiratory insufficiency, Enlarged ... ORPHA:705
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul... OMIM:279000
Immunodeficiency 32B
Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Pectus excavatum, Metaphyseal spurs, Dysplastic iliac wing, Short long bone, ... OMIM:608728
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Exertional dyspnea, Atelectasis, Pulmonary fibrosis ORPHA:254361
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary infiltrates, Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic... ORPHA:217563
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Sensorineural hearing impairment, Precocious puberty, Aplasia/Hypoplasia of the eyebrow, Scoliosi... ORPHA:2637
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates, Polyarticular arthritis OMIM:235900
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormality of the ankles, Abnormal ilium morphology, Abnormal vertebral morpholog... ORPHA:163665
Granulomatosis With Polyangiitis
Sinusitis, Pulmonary infiltrates, Conjunctivitis, Respiratory insufficiency, Hemosiderin-laden ma... OMIM:608710
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Skin rash, Splenomegaly, Cough, Arthritis, Uveitis, Restrictive ventilatory d... ORPHA:36412
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Abnormal joint morphology, Osteoarthritis, Platyspondyly, Synostosis of carpal bones, ... ORPHA:93351
Becker Nevus Syndrome
Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis OMIM:604919
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:98754
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Sensorineural hearing impairment, Kyphosis, Hyperinsulinemia, Type II diabetes mellitus, Short st... ORPHA:3085
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... OMIM:618395
Hypomandibular Faciocranial Dysostosis
Abnormal tracheobronchial morphology, Craniosynostosis, Upslanted palpebral fissure, Abnormal mor... ORPHA:1790
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:98793
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Coxa vara, Narrow greater sciatic notch, Platyspondyly, Anterior rib cupping, Short... OMIM:602271
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Intraalveolar phospholipid accumulation, Reduced ... OMIM:300770
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, Pneumonia OMIM:614069
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:177904
Sim1-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Small scrotum... ORPHA:398079
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Osteogenesis Imperfecta, Type Ix
Kyphosis, Pectus excavatum, Platyspondyly, Scoliosis, Wormian bones, Pectus carinatum, Short lowe... OMIM:259440
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:177901
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... ORPHA:95430
Immunodeficiency 48
Eczematoid dermatitis, Splenomegaly, Pneumonia, Absence of CD8-positive T cells, Recurrent respir... OMIM:269840
Familial Hyperprolactinemia
Amenorrhea, Infertility, Oligomenorrhea, Menorrhagia, Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Keutel Syndrome
Short stature, Tracheal atresia, Recurrent sinusitis, Calcification of cartilage, Hearing impairm... ORPHA:85202
Prader-Willi-Like Syndrome
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:398073
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Spondyloepimetaphyseal Dysplasia, Shohat Type
Squared-off platyspondyly, Abdominal distention, Severe short stature, Narrow vertebral interpedi... ORPHA:93352
Eosinophilia, Familial
Pulmonary infiltrates, Leukocytosis, Eosinophilia, Recurrent bronchitis, Anemia, Thrombocytopenia OMIM:131400
Bardet-Biedl Syndrome 16
Respiratory distress, External genital hypoplasia, Bronchiolitis, Renal cyst, Hypogonadism, Heari... OMIM:615993
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Abnormal proportion of CD4-positive T... ORPHA:133
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615451
Netherton Syndrome
Asthma, Skin rash, Eczema, Emphysema, Erythroderma, Recurrent respiratory infections ORPHA:634
Prader-Willi Syndrome
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Vomiting, Clitora... ORPHA:739
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... OMIM:184250
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Chronic bronchitis, Abnormal axonemal organization of respiratory motile ... OMIM:613808
Hurler-Scheie Syndrome
Kyphosis, Short stature, Contracture of the distal interphalangeal joint of the fingers, Camptoda... OMIM:607015
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Metaphyseal cupping, Thin ribs, Short ribs, Disc-like vertebral bodies, Hypoplastic... OMIM:151210
Vacterl/Vater Association
Vertebral segmentation defect, Hypoplasia of penis, Cryptorchidism, Bifid scrotum, Tracheoesophag... ORPHA:887
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... OMIM:616037
Isolated Klippel-Feil Syndrome
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... ORPHA:2345
Pulmonary Alveolar Proteinosis, Acquired
Intraalveolar phospholipid accumulation, Brain abscess, Decreased DLCO, Cough, Pneumonia, Restric... OMIM:610910
Magel2-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Small scrotum... ORPHA:398069
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Kyphoscoliosis, Short stature, Platyspondyly, Lumbar scoliosis, Se... OMIM:612847
Cholesterol Pneumonia
Pneumonia, Cough, Tachypnea OMIM:215030
Anaplastic Thyroid Carcinoma
Respiratory distress, Anaplastic thyroid carcinoma, Nodular goiter, Tracheoesophageal fistula, Ne... ORPHA:142
Epiphyseal Dysplasia, Multiple, 6
Irregular vertebral endplates, Intervertebral disk calcification, Flat capital femoral epiphysis,... OMIM:614135
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, Rec... OMIM:620032
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology, Short neck, Vertebral segmentation defect ORPHA:2578
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615500
Acrocapitofemoral Dysplasia
Narrow chest, Cone-shaped metacarpal epiphyses, Coxa vara, Pectus excavatum, Abnormal femoral nec... ORPHA:63446
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... OMIM:271520
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Pneumocystosis
Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Respiratory i... ORPHA:723
Geleophysic Dysplasia 3
Sleep apnea, Short stature, Tracheal stenosis, Pneumonia, Dyspnea, Respiratory failure, Subglotti... OMIM:617809
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Irregular vertebral endplates, Kyphoscoliosis, Squared-off... OMIM:271630
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Recurrent r... OMIM:618801
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Coxa vara, Metaphyseal dysplasia, Metaphyseal irregularity, Short ribs, Abnormally ossified verte... OMIM:613330
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... OMIM:184252
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:608647
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resis... ORPHA:280356
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasia, Narrow gr... ORPHA:168549
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... OMIM:265450
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Diaphanospondylodysostosis
Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossi... ORPHA:66637
Microlissencephaly
Pneumonia ORPHA:1083
Kuskokwim Syndrome
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Scoliosis, Abnormal form of the ... ORPHA:1149
Ciliary Dyskinesia, Primary, 14
Bronchiectasis, Chronic bronchitis, Otitis media, Absent inner dynein arms, Abnormal axonemal org... OMIM:613807
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615504
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Abnormally ossified vertebrae, Microtia, Multicystic kidney dysplasia, Abnormal l... ORPHA:3301
Cerebrofaciothoracic Dysplasia
Sprengel anomaly, Rib fusion, Bifid ribs, Narrow chest, Vertebral segmentation defect, Hemiverteb... ORPHA:1394
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Abnormal pinna morphology, Short palpebral fissure, Tracheomalacia, Hypospa... OMIM:217980
Xp22.3 Microdeletion Syndrome
Short stature, Hypogonadotropic hypogonadism, Secondary amenorrhea, Polycystic ovaries, Decreased... ORPHA:1643
Tularemia
Respiratory distress, Pulmonary infiltrates, Conjunctivitis, Skin rash, Otitis media, Anemia, Leu... ORPHA:3392
Ciliary Dyskinesia, Primary, 39
Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ... OMIM:618254
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Chronic bronchitis... OMIM:614935
Jeune Syndrome
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Cone-shaped epiphysis, B... ORPHA:474
19P13.3 Microduplication Syndrome
Intrauterine growth retardation, Kyphoscoliosis, Precocious puberty, Constipation, Gastroesophage... ORPHA:447980
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Hypoplasia of penis, Decreased response to growth hormone stimulation test, Congenital hypothyroi... OMIM:601427
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... OMIM:234810
Achondrogenesis, Type Ii
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... OMIM:200610
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Delayed epiphyseal ossification, Pectus excavatum, Spindle-shaped finger, Cutane... ORPHA:166024
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Prader-Willi Syndrome
Hyperinsulinemia, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Genu valg... OMIM:176270
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Short neck, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Pectu... ORPHA:239
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Absent central microtubular pair morphology of respiratory motile cilia, Chronic ... OMIM:617091
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the humeroulnar joint, Hemivertebrae, Short neck, Abnormal form of the vertebral b... ORPHA:2234
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,... ORPHA:1570
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... ORPHA:91348
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Irregular vertebral endplates, Advanced ossification of carpal bones, Kyphoscoliosis, Knee disloc... OMIM:618363
Ciliary Dyskinesia, Primary, 35
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Nasal polyposis, Recurrent respirator... OMIM:617092
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pulmonary infiltrates, Neutrophilia, Leukocytosis, Nonproductive cough, Ple... ORPHA:36238
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:619436
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Abnormal central microtubular pair morphology of respiratory motil... OMIM:612650
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pinna morphology, Kyphoscoliosis, Stippled calcification in carpal bones, Sparse eyebrow... OMIM:302960
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Recurren... OMIM:613193
Juberg-Hayward Syndrome
Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis, Abnormal rib m... ORPHA:2319
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Abnormal hip bone morphology, Short nec... ORPHA:2522
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Joint dislocation, Hyper... ORPHA:457059
Aspergillosis
Keratitis, Ground-glass opacification, Abnormality on pulmonary function testing, Rhinorrhea, Pne... ORPHA:1163
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, B lymphocytopenia, Arthritis, T lymphocytopenia, Pneumonia, Conj... OMIM:601457
Hypersecretion Of Adrenal Androgens, Familial
Amenorrhea, Premature pubarche, Increased circulating androgen concentration, Adrenal overactivity OMIM:145295
Whim Syndrome
Sinusitis, Neutropenia, Lymphopenia, Otitis media, Recurrent upper respiratory tract infections, ... ORPHA:51636
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Sialadenitis, Graves disease, Euthyroid goiter, Abnormality o... ORPHA:64744
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pulmonary opa... ORPHA:411703
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Short neck, Platyspondyly, Abnormal rib morphology, A... ORPHA:93267
Ciliary Dyskinesia, Primary, 22
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Nasal polyp... OMIM:615444
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Rigid Spine Syndrome
Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia ORPHA:97244
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Thoracomelic Dysplasia
Narrow chest, Short ribs, Short neck, Bell-shaped thorax, Abnormality of fibula morphology, Hyper... ORPHA:1803
Pontine Tegmental Cap Dysplasia
Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis OMIM:614688
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Horizontal ribs, Thoracic... OMIM:615633
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty, Ptosis ORPHA:2229
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira... OMIM:608644
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Feeding difficulties, Gonadal dysgenesis, Low-set, posteriorly rotated ears, ... ORPHA:3306
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema OMIM:219100
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology ORPHA:1506
Ataxia-Telangiectasia
Telangiectasia of the skin, Premature graying of hair, Type II diabetes mellitus, Prematurely age... ORPHA:100
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, Recurrent ... OMIM:607594
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Oligomenorrhea OMIM:604931
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Impaired nasal mucociliary clearance, Recurrent otitis media, Bronchiectasis OMIM:618449
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia, Respiratory failure OMIM:619887
Nocardiosis
Respiratory distress, Keratitis, Lymphadenitis, Pneumonia, Pericarditis, Respiratory failure, Scl... ORPHA:31204
Sarcoidosis, Susceptibility To, 1
Iridocyclitis, Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid lymphocyte proportion... OMIM:181000
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Schneckenbecken Dysplasia
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Short long bone, S... OMIM:269250
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Acute Lung Injury
Respiratory distress, Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Tachypne... ORPHA:178320
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Decreased circulating cortisol level, Premature thelarche, Long peni... ORPHA:90795
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Beaking of vertebral bodies, Platyspondyly, Hip osteoarthritis, He... OMIM:604864
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Increased ... OMIM:183849
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Chronic otitis media, Chronic rhinitis, Ciliary dyskinesia, Chronic sin... OMIM:614017
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Pulmonary infiltrates, Colitis, Splenomegaly, Decreased basophil count, Pancytop... OMIM:618394
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Irregular femoral epiphysis, Pectus carinatum, Bell-shaped thorax, Genu valgum, V... OMIM:255710
Frontometaphyseal Dysplasia 2
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Dislo... OMIM:617137
Nephronophthisis-Like Nephropathy 2
Bronchiectasis, Pulmonary infiltrates, Recurrent respiratory infections, Cough OMIM:619468
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis, Recurrent respiratory ... OMIM:300991
Immunodeficiency 27A
Histiocytosis, Pulmonary infiltrates, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocyto... OMIM:209950
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Respiratory insufficiency, Tracheal stenosis, Abnormal form of the ver... ORPHA:93941
Ciliary Dyskinesia, Primary, 32
Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Holt-Oram Syndrome
Sprengel anomaly, Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Absent thumb, Down-sl... ORPHA:392
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bodies, Slender long bon... ORPHA:1486
Diastrophic Dysplasia
Hypertrophic auricular cartilage, Kyphoscoliosis, Lumbar hyperlordosis, Disproportionate short-li... OMIM:222600
Lymphangioleiomyomatosis
Pulmonary infiltrates, Chylothorax, Cough, Atelectasis, Restrictive ventilatory defect, Emphysema... ORPHA:538
Scedosporiosis
Sinusitis, Osteomyelitis, Apical pulmonary opacity, Pleural empyema, Endocarditis, Cough, Pleurit... ORPHA:449280
Fraser Syndrome
Ambiguous genitalia, Pulmonary hypoplasia, Small scrotum, Subglottic stenosis, Vertebral segmenta... ORPHA:2052
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology OMIM:300864
Diastrophic Dysplasia
Kyphosis, Abnormal clavicle morphology, Hypoplastic cervical vertebrae, Joint dislocation, Campto... ORPHA:628
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Crackles, Acute infectious pneumonia, Tachypnea, Resp... ORPHA:264675
Immunodeficiency 75
Bronchiectasis, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Recurr... OMIM:619126
Multiple Pterygium Syndrome, Escobar Variant
Down-sloping shoulders, Short neck, Ulnar deviation of finger, Rocker bottom foot, Pterygium, Rib... OMIM:265000
Ciliary Dyskinesia, Primary, 17
Cough, Chronic rhinitis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Chron... OMIM:614679
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Intraalveolar phosp... OMIM:265120
Cutis Laxa, Autosomal Dominant 1
Bronchiectasis, Dyspnea, Peripheral pulmonary artery stenosis, Emphysema OMIM:123700
Congenital Hypothyroidism
Sinusitis, Abnormality of the thyroid gland, Constipation, Abdominal distention, Prolonged neonat... ORPHA:442
Diffuse Alveolar Hemorrhage
Irregular septal thickening on pulmonary HRCT, Airway obstruction, Increased DLCO, Pulmonary veno... ORPHA:90060
Immunodeficiency 62
Bronchiectasis, Autoimmune thrombocytopenia OMIM:618459
Fusariosis
Keratitis, Maculopapular exanthema, Ground-glass opacification, Pneumonia, Osteomyelitis, Air cre... ORPHA:228119
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Decreased testicular size, Male hypogonadism ORPHA:393
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Abnormal cartilage matrix, Tracheomalacia, Respiratory insufficiency, Neonatal... OMIM:245650
Smith-Mccort Dysplasia 1
Metaphyseal irregularity, Multicentric femoral head ossification, Kyphosis, Prominent sternum, Be... OMIM:607326
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal antihelix morphology, Abnormal pinna morphology, Constipation, Elbow ankylosis, Abnormal... ORPHA:95699
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short humerus, Short neck, Short femoral neck, Scoliosis, Biconcave ... OMIM:610319
Fibrochondrogenesis 2
Metaphyseal cupping, Short ribs, Hypoplastic ilia, Metaphyseal widening, Platyspondyly, Hypoplast... OMIM:614524
Granulomatous Disease, Chronic, X-Linked
Impaired oxidative burst, Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid der... OMIM:306400
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Hepatosplenomegaly, Crackles, Reticular... ORPHA:99931
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Cough, Chronic sinusitis, Bronchiectasis, Neonatal respiratory distress, Rh... OMIM:618063
Larsen Syndrome
Conductive hearing impairment, Beaking of vertebral bodies, Accessory carpal bones, Knee dislocat... OMIM:150250
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr... OMIM:266265
Klippel-Feil Syndrome 1, Autosomal Dominant
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... OMIM:118100
Combined Immunodeficiency Due To Dock8 Deficiency
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, B lymphocyt... ORPHA:217390
Smith-Lemli-Opitz Syndrome
Cutis marmorata, Downslanted palpebral fissures, Ambiguous genitalia, Rhizomelia, Pulmonary hypop... ORPHA:818
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... OMIM:611884
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... OMIM:184253
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... ORPHA:90117
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum OMIM:602196
Isolated Agammaglobulinemia
Sinusitis, Skin rash, Otitis media, Abnormal lymphocyte morphology, Arthritis, Abnormality of neu... ORPHA:229717
Radio-Tartaglia Syndrome
Large earlobe, Low-set ears, Conductive hearing impairment, Precocious puberty, Constipation, Gas... OMIM:619312
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Dislocated radial head, Beaking of vertebral bodies, Kyphoscoliosis, Hypoplastic ilia, Flared met... ORPHA:93359
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Adrenocorticotropic hormone deficiency, Impotence, Precocious puberty, Decreased response to grow... ORPHA:91354
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... OMIM:313400
Cryptogenic Organizing Pneumonia
Respiratory distress, Neutrophilia, Hypoxemia, Leukocytosis, Nonproductive cough, Crackles, Wheez... ORPHA:1302
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ribs, Platyspondyly, 11 pair... OMIM:300863
Cd8 Deficiency, Familial
Bronchiectasis, Absence of CD8-positive T cells, Recurrent respiratory infections OMIM:608957
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Feeding difficulties, Maturity-onset diabetes of the young, Scoliosis, Postna... ORPHA:254531
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Nasal polyposis, Otitis media, Ciliary dyskinesia, Bronchiectasi... OMIM:606763
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... OMIM:602557
Waardenburg Syndrome Type 3
Thick eyebrow, Tracheomalacia, Camptodactyly of finger, Synostosis of carpal bones, Downslanted p... ORPHA:896
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus excavatum, Short ribs, Scoliosis, Pseudoarthrosis, Missing ribs OMIM:618155
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Hemivertebrae, Brachydactyly, Scoliosis, Abnormal form of the vertebral bodies,... ORPHA:2180
White Forelock With Malformations
Sprengel anomaly, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal rib morphology, ... ORPHA:2475
Distal Monosomy 10P
Hypoplasia of penis, Cryptorchidism, Short stature, Polycystic ovaries, Low-set, posteriorly rota... ORPHA:1580
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Low-set, posteriorly rotated ears, Feeding difficulties in infancy, Postnatal... ORPHA:254525
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Barrel-shaped chest, Platysp... OMIM:184100
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Coxa vara, Prominent sternum, Thin ribs, Flared iliac wing, Metaphyseal widening, Short neck, Ant... OMIM:300232
Immunodeficiency 52
Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splen... OMIM:617514
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Craniosynostosis, Scoliosis, Abnormal vertebral morphology, Hand polydactyly ORPHA:261197
Slc35A1-Cdg
Respiratory distress, Neutropenia, Pulmonary hemorrhage, Giant platelets, Pneumonia, Hypoxemia, T... ORPHA:238459
Primary Pulmonary Hypoplasia
Apnea, Asthma, Intrauterine growth retardation, Hypoxemia, Abnormal tracheal morphology, Cyanosis... ORPHA:2257
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Greenberg Dysplasia
Narrow chest, Anterior rib punctate calcifications, Abnormally ossified vertebrae, Platyspondyly,... ORPHA:1426
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Pulmonary fibrosis, Premature ovarian insufficiency, Goiter OMIM:617175
Ollier Disease
Platyspondyly, Precocious puberty, Multiple enchondromatosis, Abnormal cartilage morphology ORPHA:296
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty, Thick eyebrow, Overfolded helix, Downslanted palpebral fissures, Synophrys, P... OMIM:300801
Basilicata-Akhtar Syndrome
Abnormal pinna morphology, Precocious puberty, Gastroesophageal reflux, Feeding difficulties, Dow... OMIM:301032
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Abnormal lacrimal duct morphology, Female infertility, Streak ovary, Hypergonadotropic hypogonadi... ORPHA:572333
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Polyembryoma
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... ORPHA:180229
Mccune-Albright Syndrome
Increased serum testosterone level, Precocious puberty, Gastroesophageal reflux, Elevated circula... ORPHA:562
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Oligomenorrhea,... OMIM:604367
Mosaic Trisomy 14
Narrow chest, Camptodactyly of finger, Short neck, Abnormal rib morphology ORPHA:1703
Cutis Laxa, Autosomal Recessive, Type Ic
Pulmonary artery stenosis, Pulmonary hypoplasia, Emphysema, Tracheomalacia OMIM:613177
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Bronchiec... OMIM:615513
Asherman Syndrome
Infertility, Miscarriage, Episodic abdominal pain, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Ab... ORPHA:137686
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis, Neonatal asphyxia, Congenital laryngeal stridor ORPHA:2375
Donohue Syndrome
Precocious puberty, Abdominal distention, Hyperinsulinemia, Ovarian cyst, Long penis, Clitoral hy... OMIM:246200
Kbg Syndrome
Rib fusion, Clinodactyly of the 5th finger, Ulnar deviation of the 2nd finger, Cutaneous syndacty... OMIM:148050
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Chronic otitis media, Cough, Atelectasis, Recurre... ORPHA:2314
Loeys-Dietz Syndrome 4
Pneumothorax, Eosinophilic infiltration of the esophagus, Emphysema OMIM:614816
Fibrochondrogenesis 1
Short neck, Platyspondyly, Dumbbell-shaped long bone, Posterior rib cupping, Short long bone, Tho... OMIM:228520
Silver-Russell Syndrome
Abnormal vagina morphology, Precocious puberty, Gastroesophageal reflux, Constipation, Cryptorchi... ORPHA:813
Bainbridge-Ropers Syndrome
Vomiting, Downslanted palpebral fissures, Long eyelashes, Intrauterine growth retardation, Precoc... OMIM:615485
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Pneumonia ORPHA:464370
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Joint dislocation, Short neck, Platyspondyly, Scoliosis, Pectus ... ORPHA:582
Cleft Velum
Aspiration pneumonia, Recurrent otitis media ORPHA:99772
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Pulmonary edema, Abdominal distention, Abdominal pain, Ovaria... ORPHA:64739
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Subpleural interstitial thickening, Multiple pulmonary cysts, Hypo... ORPHA:79128
Fraser Syndrome 3
Tracheal atresia, Cryptophthalmos, Small scrotum, Abnormal lung lobation OMIM:617667
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Fibrochondrogenesis
Narrow chest, Short ribs, Camptodactyly of finger, Short neck, Brachydactyly, Abnormal form of th... ORPHA:2021
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Ambiguous genitalia, male, Feeding difficulties, Bifid scrotum, Micropenis,... OMIM:300219
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress OMIM:619057
Congenital Generalized Lipodystrophy
Amenorrhea, Precocious puberty in females, Hyperinsulinemia, Oligomenorrhea, Clitoral hypertrophy... ORPHA:528
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Lymphopenia, Inflammation of the large intestine, Pulmonary hypoplasia, Bronchiectasis, Interstit... OMIM:619708
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Cystic Echinococcosis
Abdominal symptom, Abnormality of the testis size, Urticaria, Asthma, Jaundice, Multiple pulmonar... ORPHA:400
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Sho... OMIM:250420
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Chronic pulmonary obstruction, Chronic bronchitis, Abnormally low T cel... OMIM:618986
Thanatophoric Dysplasia, Type I
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187600
Grant Syndrome
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Wormian bone... ORPHA:2097
Osteogenesis Imperfecta, Type Ii
Tibial bowing, Thin ribs, Platyspondyly, Crumpled long bones, Wormian bones, Bell-shaped thorax, ... OMIM:166210
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Miscarriage, Abnormal external... ORPHA:90794
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... ORPHA:93314
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis... OMIM:615482
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Broad clavicles, Hyperlordosis, Irregular ... OMIM:619698
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Xp22.13P22.2 Duplication Syndrome
Short stature, Recurrent upper respiratory tract infections, Scoliosis, Downslanted palpebral fis... ORPHA:284180
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Broad hallux phalanx, Sh... ORPHA:3082
Autosomal Recessive Multiple Pterygium Syndrome
Vertebral segmentation defect, Rib fusion, Pectus excavatum, Abnormal sternum morphology, Multipl... ORPHA:2990
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Abnormal rib morphology, Abnormality... ORPHA:3035
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Craniofacioskeletal Syndrome
Intrauterine growth retardation, Short palpebral fissure, Microtia, Short stature, Hypospadias, D... OMIM:300712
Caspase 8 Deficiency
Asthma, Splenomegaly, Eczema, Pneumonia, Recurrent sinopulmonary infections, Decreased CD4:CD8 ratio OMIM:607271
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pulmonary infiltrates, Pulmonary edema, Pancreatitis, Pneumonia, Hypoxe... ORPHA:70578
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... OMIM:253000
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Micropenis, Microtia, Hypospadias, Upslanted palpebral fissure, Respiratory insufficiency, Short ... ORPHA:163979
Achondrogenesis Type 1B
Narrow chest, Short neck, Abnormal rib morphology, Short foot, Short thorax ORPHA:93298
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Arachnodactyly, Hemivertebrae, Abnormal form of the vertebral bod... ORPHA:2759
Avian Influenza
Respiratory distress, Pulmonary infiltrates, Conjunctivitis, Lymphopenia, Nonproductive cough, Le... ORPHA:454836
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Skin rash, Hypoplasia of the thymus, T lymphocytopenia, Impaired lympho... OMIM:300400
Pulmonary Alveolar Microlithiasis
Ground-glass opacification, Pneumothorax, Respiratory failure, Decreased fertility, Interlobular ... ORPHA:60025
Robinow Syndrome, Autosomal Recessive 1
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the... OMIM:268310
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Respiratory insufficiency, Recurrent pneumonia, Emphysema, ... ORPHA:90349
Hydrolethalus
Cryptorchidism, Tracheal atresia, Low-set, posteriorly rotated ears, Abnormal fallopian tube morp... ORPHA:2189
Mucolipidosis Iii Gamma
Kyphosis, Flat capital femoral epiphysis, Abnormal rib cage morphology, Flared iliac wing, Short ... OMIM:252605
Melnick-Needles Syndrome
Narrow chest, Short distal phalanx of finger, Short clavicles, Cone-shaped epiphyses of the phala... ORPHA:2484
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Cartilage-Hair Hypoplasia
Disproportionate short-limb short stature, Sparse eyebrow, Abnormally ossified vertebrae, Biconve... ORPHA:175
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:615139
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent skin infections, Eczema, Atopic dermatitis, Eosinophilia, Chronic mucocutaneous candidi... OMIM:618282
Smith-Magenis Syndrome
Conductive hearing impairment, Precocious puberty, Gastroesophageal reflux, Constipation, Abnorma... ORPHA:819
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Recurrent skin infections, Atrophic gastritis, Thrombocytopenia, R... OMIM:616576
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Infantile sensorineural hearing impairment, Respiratory insufficiency, Scol... ORPHA:254875
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly, Respiratory insufficiency, Intraalveolar phospholipid accumulation, R... OMIM:618042
3M Syndrome
Kyphosis, Enlarged thorax, Clinodactyly of the 5th finger, Increased vertebral height, Thin ribs,... ORPHA:2616
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Short stature, Hypergonadotropic hypogonadism, Secondary amenorrhea, Insulin-resistant diabetes m... OMIM:268020
19P13.12 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Kyphosis, Precocious puberty, Cr... ORPHA:254346
Esophageal Atresia
Respiratory distress, Abnormal external genitalia, Tracheoesophageal fistula, Vomiting, Pulmonary... ORPHA:1199
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Feeding difficulties, Short stature, Maturity-onset diabetes of the young, Sc... ORPHA:96184
Farber Disease
Respiratory distress, Joint swelling, Feeding difficulties, Nodular pattern on pulmonary HRCT, He... ORPHA:333
Congenital Factor Vii Deficiency
Joint hemorrhage, Bruising susceptibility, Ovarian cyst, Menorrhagia, Gastrointestinal hemorrhage... ORPHA:327
Phaver Syndrome
Butterfly vertebrae, Broad hallux phalanx, Camptodactyly of finger, Abnormal form of the vertebra... ORPHA:2876
Microphthalmia, Syndromic 3
Rib fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary... OMIM:206900
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Abnormal pinna morphology, Intrauterine growth retardation, Hypospadi... OMIM:236680
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Ciliary Dyskinesia, Primary, 37
Infertility, Goiter, Wheezing, Hypothyroidism, Chronic rhinitis, Rhinorrhea, Bronchiectasis, Hear... OMIM:617577
Zygomycosis
Pancreatitis, Gastritis, Acute infectious pneumonia, Myocarditis, Rhinorrhea, Pericarditis, Colit... ORPHA:73263
Keutel Syndrome
Peripheral pulmonary artery stenosis, Airway obstruction, Sinusitis, Recurrent otitis media, Pulm... OMIM:245150
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Precocious puberty, Ovarian neoplasm, Uterine neoplasm, Episodic abdomi... ORPHA:370348
Pallister-Hall Syndrome
Decreased circulating cortisol level, Hemivertebrae, Radial head subluxation, Intrauterine growth... OMIM:146510
Hyperparathyroidism, Transient Neonatal
Narrow chest, Femoral bowing, Thin ribs, Short ribs OMIM:618188
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Megaloblastic anemia, Gastritis, Recurrent bronchopulmonary infections, Recurrent pneumonia, Emph... OMIM:219721
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Autoimmune thrombocytopenia, Recurrent sinusitis, Recurrent bronchitis, Decreased p... OMIM:300853
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract in... OMIM:263000
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Short fifth metatarsal, Hypoplastic acetabulae, Dysplastic sacrum, ... OMIM:134780
Ovarian Fibrothecoma
Increased serum testosterone level, Abdominal distention, Abnormal endometrium morphology, Metror... ORPHA:314478
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Kyphosis, Prominent sternum, Constricted iliac... OMIM:253010
Optic Pathway Glioma
Precocious puberty, Nausea, Growth delay, Vomiting ORPHA:2086
Ciliary Dyskinesia, Primary, 24
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis OMIM:615481
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy, Feeding difficulties, Cyanotic episode OMIM:610992
Pleural Mesothelioma
Respiratory distress, Abnormal respiratory system physiology, Abnormal pleura morphology, Cough, ... ORPHA:50251
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Respiratory insufficiency, Hepatos... OMIM:618278
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Constipation,... ORPHA:361
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Dysmenorrhea, Oligomenorrhea, Primary amenorrhea, Maternal diabetes, Se... ORPHA:79083
Carpenter Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Preco... OMIM:201000
Cog1-Cdg
Posterior rib gap, Rib fusion, Vertebral segmentation defect, Kyphoscoliosis, Butterfly vertebrae... ORPHA:263508
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Wormian bones, Abnormal rib morpholog... ORPHA:2050
Acrodysplasia Scoliosis
Vertebral segmentation defect, Brachydactyly, Spina bifida occulta, Scoliosis ORPHA:2956
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Gastroesophageal reflux, Feeding difficulties in infancy, Premature pubarche, Gastrostomy tube fe... ORPHA:457205
Preeclampsia
Abdominal pain, Helicobacter pylori infection, Type I diabetes mellitus, Polycystic ovaries, Intr... ORPHA:275555
Dentici-Novelli Neurodevelopmental Syndrome
Hearing impairment, Precocious puberty, Upslanted palpebral fissure, Macrotia OMIM:619877
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Intrauterine growth retardation, Delayed cranial suture closure, Respirator... ORPHA:1832
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Narrow chest, Short ribs, Brachydactyly, Polydactyly, Scoliosis, Short long bone OMIM:613819
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Small hand, Scoliosis, Missing ribs, Block vertebrae... ORPHA:50
9P13 Microdeletion Syndrome
Precocious puberty, Abnormality of cartilage of external ear, External genital hypoplasia, Thick ... ORPHA:324313
Chst3-Related Skeletal Dysplasia
Enlarged joints, Kyphoscoliosis, Barrel-shaped chest, Brachydactyly, Irregular epiphyses, Scolios... ORPHA:263463
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Chronic lung disease, Inflammation of the large intestine, T lymphocytopeni... OMIM:618108
Osteogenesis Imperfecta, Type Xxi
Coxa vara, Bowing of the legs, Pectus excavatum, Barrel-shaped chest, Bowing of the arm, Platyspo... OMIM:619131
Achondrogenesis, Type Ia
Narrow chest, Bowing of the legs, Short clavicles, Stillbirth, Short ribs, Hypoplasia of the radi... OMIM:200600
Rudiger Syndrome
Ovarian cyst, Death in infancy, Bicornuate uterus, Micropenis OMIM:268650
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hearing impairment, Precocious puberty, Scoliosis ORPHA:457260
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Sprengel anomaly, Rib fusion, Bifid ribs, Pectus excavatum, Narrow chest, Overlapping toe, Beakin... OMIM:213980
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bo... OMIM:604922
Meier-Gorlin Syndrome 6
Tracheobronchomalacia, Recurrent respiratory infections, Emphysema OMIM:616835
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... ORPHA:596
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infections, Ciliary dyskin... OMIM:215520
Ciliary Dyskinesia, Primary, 6
Sinusitis, Recurrent sinusitis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia... OMIM:610852
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased B cell count, Recurrent otitis media, ... OMIM:618982
Melioidosis
Splenic abscess, Prostatitis, Osteoarthritis, Brain abscess, Abnormality of the spleen, Acute inf... ORPHA:31202
Achondrogenesis Type 1A
Narrow chest, Multiple rib fractures, Short neck, Short foot, Short thorax, Short palm ORPHA:93299
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypop... ORPHA:163966
Lethal Kniest-Like Dysplasia
Narrow chest, Hypoplastic vertebral bodies, Short ribs, Hypoplastic ilia, Flared metaphysis, Shor... ORPHA:2347
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Lymphopenia, Otitis media, Eosinophilia, Hepatosplenomegaly, Hepatitis,... ORPHA:169160
Short Stature And Facioauriculothoracic Malformations
Pectus excavatum, Short neck, Pectus carinatum, Cervical ribs, Abnormality of the odontoid process OMIM:609654
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent upper respiratory tract infections, Autoimmune thrombocytopenia, Bronchi... OMIM:608184
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic rhinitis, Recurrent lower respiratory tract... OMIM:618699
Atelosteogenesis Type I
Coronal cleft vertebrae, Joint dislocation, Abnormal pancreatic duct morphology, Neonatal short-t... ORPHA:1190
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Crackles, Aplastic anemia, Reticular pattern on pulmonary HRCT, Myeloid leukemia, Decreased DLCO,... OMIM:614742
Central Precocious Puberty
Premature thelarche, Increased circulating gonadotropin level, Isosexual precocious puberty, Prop... ORPHA:759
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Severe intrauterine growth retardation, Precocious puberty, Gastroesophageal reflux, Constipation... ORPHA:96182
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Hemophagocytosis, Splenomegaly, Recurrent upper respiratory tract infections, Hepatosple... OMIM:613101
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Broad phalanx, Anterior wedging of T11, Platy... OMIM:300106
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Lymphopenia, Recurrent sinopulmonary infections, Recurrent skin infections, Eosino... ORPHA:486
Diarrhea 12, With Microvillus Atrophy
Bronchiectasis, Respiratory tract infection OMIM:619445
Ciliary Dyskinesia With Excessively Long Cilia
Sinusitis, Airway obstruction, Nasal polyposis, Chronic rhinitis, Abnormal respiratory motile cil... OMIM:242680
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... ORPHA:1436
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Multiple rib fractures, Platyspondyly, Angulated humerus, Wormian bones, Bowing of ... OMIM:616229
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum OMIM:140850
Sarcoidosis
Maculopapular exanthema, Abnormal pleura morphology, Uveitis, Abnormal lung morphology, Abnormal ... ORPHA:797
Slc35A2-Cdg
Sensorineural hearing impairment, Precocious puberty, Gastroesophageal reflux, Feeding difficulti... ORPHA:356961
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Short ribs, Craniosynosto... OMIM:252600
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... OMIM:300200
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Camptodactyly of finger, Scoliosis, Abnormal rib morphology, Missin... ORPHA:1488
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia ORPHA:195
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections, Neutropenia OMIM:193670
Legionnaires Disease
Pulmonary infiltrates, Pancreatitis, Lymphopenia, Splenomegaly, Respiratory insufficiency, Endoca... ORPHA:549
Pituitary Gigantism
Amenorrhea, Pituitary growth hormone cell adenoma, Increased circulating insulin-like growth fact... ORPHA:99725
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Recurrent skin infections, Increased propor... OMIM:301082
Autosomal Recessive Robinow Syndrome
Pectus excavatum, Short neck, Pectus carinatum, Sandal gap, Sacral dimple, Elbow dislocation, Sho... ORPHA:1507
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the pulmonary artery, Emphysema ORPHA:363618
Emphysema, Congenital Lobar
Respiratory distress, Bronchial cartilage hypoplasia OMIM:130710
Cardiocranial Syndrome, Pfeiffer Type
Episodic tachypnea, Cryptorchidism, Micropenis, Short stature, Hypospadias, Abnormal tracheal mor... ORPHA:2872
Panbronchiolitis, Diffuse
Rhonchi, Crackles, Wheezing, Cough, Bronchiectasis, Hypoxemia OMIM:604809
Luscan-Lumish Syndrome
Advanced ossification of carpal bones, Short stature, Irregular menstruation, Downslanted palpebr... OMIM:616831
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Hemivertebrae, Block vertebrae, Scoliosis, Missing r... OMIM:304050
Klippel-Feil Syndrome 2, Autosomal Recessive
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae OMIM:214300
Choanal Atresia
Respiratory distress, Feeding difficulties, Craniosynostosis, Tracheomalacia, Cyanosis, Abnormal ... ORPHA:137914
Baller-Gerold Syndrome
Rib fusion, Carpal synostosis, Hypoplasia of the radius, Coronal craniosynostosis, Carpal bone ap... OMIM:218600
Stuve-Wiedemann Syndrome 2
Respiratory distress, Intrauterine growth retardation, Scoliosis, Neonatal death, Death in adoles... OMIM:619751
Familial Partial Lipodystrophy, Köbberling Type