Not currently registered for phenotyping at IMPC

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

Gene Summary

homeobox A5

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Ve... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting OMIM:608681
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infectious pneum... ORPHA:60033
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Wheezing, Abnormal respiratory system morpholo... ORPHA:70589
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Dyspnea, Panacinar emphysema, Chronic bronchitis OMIM:613490
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis, Chronic otitis m... OMIM:604571
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Osteoarthritis of the small joints of the hand... OMIM:118610
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyph... OMIM:277300
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Hemoptysis, Pulmonary infiltrates ORPHA:64741
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Atelectasis, Neona... OMIM:615294
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Otitis media, Atelectasis OMIM:300455
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Cough, Atelecta... OMIM:616726
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Low back pain, Pectus carinatum, Supernumerary ribs, Hemivertebr... OMIM:122600
Cervical Rib
Cervical ribs OMIM:117900
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Dyspnea, Cough, Plasmacytosis, Nodular pattern on pulmonary HRCT ORPHA:60026
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, M... OMIM:613686
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatitis ORPHA:60
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Stomatitis OMIM:618307
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Recurrent otit... OMIM:615067
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Emphysema, Pneumothorax ORPHA:122
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Esophagitis, Tracheal calcification, Wheezing, Exertional dyspnea, Pneumonia, Re... ORPHA:3348
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Finger syndactyly, Pectus carinatum, Abnormality of the elbow, ... ORPHA:3268
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Unilateral brachydactyly, Hemivertebrae, Syndactyly, Un... OMIM:173800
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Emphysema, Lymphopenia, Pyoderma, R... OMIM:242700
Immunodeficiency 51
Recurrent bronchitis, Folliculitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Ovoid vertebral bodies, Bell-shaped thorax, Short long bone, Coxa vara, Gen... OMIM:611702
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Missing ribs, Spina bifida occulta,... ORPHA:1797
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Wheezing, Respiratory distress, Dyspnea, Recurrent upper respiratory tr... ORPHA:60032
Histiocytosis, Familial Lipochrome
Histiocytosis, Pulmonary infiltrates OMIM:235900
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Mounier-Kühn Syndrome
Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg... ORPHA:3347
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Pectus carinatum, Osteoporotic me... OMIM:609052
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal pleura morphology, Cough, Respiratory insufficiency, Abn... ORPHA:724
Asbestos Intoxication
Wheezing, Exertional dyspnea, Ground-glass opacification, Late inspiratory crackles, Pulmonary fi... ORPHA:2302
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Metaphyseal irregularity, Pectus carinatum, Ovoid vertebral bodies, Coxa vara, Genu va... OMIM:184255
Idiopathic Achalasia
Bronchitis, Recurrent aspiration pneumonia, Wheezing, Cough ORPHA:930
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Atelectasis, Recurrent pneumonia OMIM:268500
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally lo... OMIM:618806
Tracheopathia Osteoplastica
Recurrent pneumonia, Wheezing, Dyspnea, Cough, Hemoptysis OMIM:189961
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Emphysema, Anemia, Respiratory insufficiency ORPHA:436
Becker Nevus Syndrome
Scoliosis, Abnormality of tibia morphology, Pectus carinatum, Kyphosis, Pectus excavatum, Rib fus... ORPHA:64755
Young Syndrome
Recurrent bronchitis, Congenital cystic adenomatoid malformation of the lung, Bronchiectasis, Rec... OMIM:279000
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia, Asthma, Eosinophilia OMIM:617638
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Splenomegaly OMIM:269840
Fanconi Renotubular Syndrome 5
Emphysema, Decreased DLCO, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Coxa vara, Flared, irregular rib ends, Short palm ORPHA:168555
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Abnormalit... ORPHA:2790
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, Anteverted nares, Chronic bronchitis, Depressed nasal bridge OMIM:614069
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Pulmonary arterial hypertension, Atelectasis, Neonatal asphyxia, ... ORPHA:70588
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, R... OMIM:184400
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-p... OMIM:312863
Autosomal Dominant Cutis Laxa
Emphysema ORPHA:90348
Pulmonary Hemosiderosis
Iron deficiency anemia, Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary h... OMIM:178550
Jung Syndrome
Abnormal form of the vertebral bodies, Hypothyroidism, Recurrent respiratory infections, Wide nas... ORPHA:2321
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Pendred Syndrome
Hypoplasia of the cochlea, Goiter, Hypothyroidism, Respiratory insufficiency, Enlarged vestibular... ORPHA:705
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Kyphosis, Abnormality of the metaphysis, Abn... ORPHA:1354
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs ORPHA:2435
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Tracheal atresia, Respiratory insufficiency OMIM:601612
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Short thorax, Kyphoscoliosis, Abnormality of the metap... ORPHA:93304
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Splenomegaly, Eczema, Otitis media OMIM:608971
Thoracolaryngopelvic Dysplasia
Scoliosis, Hypoplastic pelvis, Horizontal ribs, Irregular vertebral endplates, Short ribs, Bell-s... OMIM:187760
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol... OMIM:618781
Femoral-Facial Syndrome
Scoliosis, Hip dysplasia, Short femur, Radioulnar synostosis, Sprengel anomaly, Preaxial foot pol... ORPHA:1988
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Pulmonary edema, Nasal ... ORPHA:70587
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis OMIM:247800
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Abnormality of the ankles, Synostosis... ORPHA:1836
Bronchogenic Cyst
Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Pneumonia, Pulmonary cyst, Bronchoge... ORPHA:2357
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Hemolytic anemia, Bronchiectasis, Autoimmun... ORPHA:1572
Chops Syndrome
Cryptorchidism, Short nose, Gastroesophageal reflux, Long eyelashes, Laryngomalacia, Chronic lung... OMIM:616368
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Wide nasal bridge, Ptosis, Precocious puberty ORPHA:2229
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Limited elbow extension, Thoracic hypoplasia, Ovoid vertebral bodies, Irregular ep... OMIM:608728
Immunodeficiency 13
T lymphocytopenia, Bronchiectasis, Recurrent upper respiratory tract infections, Nasal polyposis,... OMIM:615518
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Tracheal atresia, Respiratory insufficiency ORPHA:3346
Immunodeficiency 32B
Bronchiectasis, Pneumonia, Sinusitis, Splenomegaly, Recurrent respiratory infections OMIM:226990
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cryptorchidism, Short nose, Respiratory distress, Laryngeal hypoplasia, Blepharophimosis, Abnorma... OMIM:217980
Cholesterol Pneumonia
Tachypnea, Cough, Pneumonia OMIM:215030
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Cough, Elevated circulating thyroid-stimulating hormone concentration, Elevated broncho... OMIM:610978
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Growth delay, Congenital hypothyroidism, Tracheal stenosis, Hypoplasia of penis, Decreased respon... OMIM:601427
Recurrent bronchopulmonary infections, Bronchiectasis, Diverticulosis of trachea OMIM:275300
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Nasal poly... OMIM:608647
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Productive cough... OMIM:615451
Bardet-Biedl Syndrome 16
Respiratory distress, Bronchiolitis, External genital hypoplasia, Hearing impairment, Hypogonadis... OMIM:615993
Eosinophilia, Familial
Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Anemia, Pulmonary infiltrates, Eosinophilia OMIM:131400
Brachytelephalangic Chondrodysplasia Punctata
Tracheal calcification, Proportionate short stature, Respiratory failure requiring assisted venti... ORPHA:79345
Hypocomplementemic Urticarial Vasculitis
Skin rash, Restrictive ventilatory defect, Dyspnea, Pleural effusion, Emphysema, Cough, Uveitis, ... ORPHA:36412
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Narrow chest, Metaphyseal irregularity, Hypoplastic ilia, Wide-cupped costochondra... OMIM:187601
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Narrow chest, Abnormal form o... ORPHA:2635
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Cough, Pneumonia... OMIM:612444
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Hyperlordosis, Platyspondyly, Disproportionate short stature, Abnormal vertebral morph... ORPHA:93352
Kbg Syndrome
Thoracic kyphosis, Rib fusion, Radial deviation of finger, Vertebral fusion, Cervical ribs, Synda... OMIM:148050
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Sim1-Related Prader-Willi-Like Syndrome
Scoliosis, Cryptorchidism, Nasogastric tube feeding, Scrotal hypoplasia, Central hypothyroidism, ... ORPHA:398079
Primary Basilar Invagination
Abnormality of the cervical spine, Short neck, Abnormal vertebral morphology, Abnormality of the ... ORPHA:2285
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Platyspondyly, Distal ulnar epiphyseal stippling, Broad toe, Beaking of vertebral bodi... OMIM:609616
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Genu valgum, Pectus carinatum, Thoracic kyphosis, Irregular vertebral e... OMIM:609223
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Abnormal proporti... ORPHA:133
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Scoliosis, Disproportionate short stature, Underdeveloped nasal alae, Aplasia/Hypoplasia of the e... ORPHA:2637
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Exertional dyspnea, Pulmonary fibrosis, Bronchiolitis ORPHA:254361
Acropectorovertebral Dysplasia
Toe syndactyly, Spina bifida occulta at L5, Abnormal vertebral morphology, Synostosis of carpal b... OMIM:102510
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchit... OMIM:615504
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Scoliosis, Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroi... ORPHA:98754
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Symbrachydactyly Of Hands And Feet
Scoliosis, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the ... ORPHA:1570
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Nasal polyposis, Chronic sinusitis, Anomalous pulmonary venous return, ... ORPHA:244
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Chronic bronc... OMIM:612649
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Scoliosis, Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroi... ORPHA:98793
Prader-Willi-Like Syndrome
Scoliosis, Cryptorchidism, Decreased circulating T4 level, Narrow palpebral fissure, Scrotal hypo... ORPHA:398073
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Platyspondyly, Limited elbow extension, Genu valgum, Short metatarsal, Upper ... OMIM:271650
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, Feeding difficulties, Low-set, posteriorly rotated ears, Growth delay, Epicanthus... ORPHA:3306
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Scoliosis, Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroi... ORPHA:177904
Magel2-Related Prader-Willi-Like Syndrome
Scoliosis, Cryptorchidism, Sleep apnea, Nasogastric tube feeding, Scrotal hypoplasia, Central hyp... ORPHA:398069
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Short thorax, Abnormal form of the vertebral bodies, Finger s... ORPHA:2311
Keutel Syndrome
Calcification of cartilage, Underdeveloped nasal alae, Recurrent sinusitis, Tracheal atresia, Hea... ORPHA:85202
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Scoliosis, Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroi... ORPHA:177901
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Restrictive ventilatory defect, Intraalveolar phospholipid accumulati... OMIM:300770
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia, Wide nasal bridge, Depressed nasal bridge OMIM:609528
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Respiratory insufficiency, Laryngomalacia, Tracheal stenos... ORPHA:93941
Brachyolmia, Maroteaux Type
Scoliosis, Platyspondyly, Short thorax, Abnormal form of the vertebral bodies, Pectus excavatum ORPHA:93302
19P13.3 Microduplication Syndrome
Hip subluxation, Underdeveloped nasal alae, Upslanted palpebral fissure, Constipation, Epicanthus... ORPHA:447980
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Cough, Rhinorrhea, Chronic lung disease, Recurrent lower ... OMIM:618254
Hurler-Scheie Syndrome
Scoliosis, Kyphosis, Short stature, Tracheal stenosis, Pulmonary arterial hypertension, Obstructi... OMIM:607015
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Stillbirth, Narrow che... OMIM:269250
Prader-Willi Syndrome
Scoliosis, Cryptorchidism, Scrotal hypoplasia, Central hypothyroidism, Nasogastric tube feeding i... ORPHA:739
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Abnormal axonem... OMIM:613808
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Preaxial hand polydactyly, Posterior rib fusion, Pectus excavatum, Hemivertebrae, Abnormal rib ca... OMIM:608406
Ciliary Dyskinesia, Primary, 30
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Nasal polyposis, Recurrent otitis m... OMIM:616037
Netherton Syndrome
Skin rash, Erythroderma, Emphysema, Asthma, Eczema, Recurrent respiratory infections ORPHA:634
Dyspnea, Chronic oral candidiasis, Interstitial pneumonitis, Parenchymal consolidation, Pleural e... ORPHA:723
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Neut... OMIM:601495
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Scoliosis, Maturity-onset diabetes of the young, Feeding difficulties, Postnatal growth retardati... ORPHA:254531
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger, Blepharophimosis, Synostosis of carpal bones, Tracheomalac... ORPHA:896
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Platyspondyly, Proximal femoral metaphyseal irregularity, Thoracic hypoplas... OMIM:602271
9P13 Microdeletion Syndrome
Scoliosis, Highly arched eyebrow, Abnormality of cartilage of external ear, Epicanthus, External ... ORPHA:324313
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Genu valgum, Upper limb undergrowth, Short metatarsal, Hypoplastic pelvis, Pectus ... ORPHA:93351
Ciliary Dyskinesia, Primary, 26
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Recurrent otit... OMIM:615500
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Multiple joint dislocation, Tracheomalacia, Laryngomalacia, Respirator... OMIM:245650
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology,... ORPHA:163665
Geleophysic Dysplasia 3
Sleep apnea, Dyspnea, Bulbous nose, Subglottic stenosis, Pneumonia, Wide nasal bridge, Respirator... OMIM:617809
Becker Nevus Syndrome
Scoliosis, Pectus excavatum, Cervical ribs, Hemivertebrae OMIM:604919
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Kyphosis, Polycy... ORPHA:3085
Staphylococcal Necrotizing Pneumonia
Cough, Pneumonia, Leukopenia, Neutrophilia, Respiratory distress, Pleural empyema, Pulmonary pneu... ORPHA:36238
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Platyspondyly, Multiple joint dislocation, Dislocated radial head, Metaphyseal irregul... OMIM:618395
Chondrodysplasia Punctata 2, X-Linked Dominant
Scoliosis, Tracheal calcification, Punctate vertebral calcifications, Abnormality of the pinna, P... OMIM:302960
Vacterl/Vater Association
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Bifid scro... ORPHA:887
Prader-Willi Syndrome
Scoliosis, Cryptorchidism, Sleep apnea, Scrotal hypoplasia, Clitoral hypoplasia, Delayed puberty,... OMIM:176270
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Ciliary Dyskinesia, Primary, 28
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchit... OMIM:615505
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Wormian bones, Pectus carinatum, Kyphosis, Pectus excavatum, Beaded rib... OMIM:259440
Ciliary Dyskinesia, Primary, 36, X-Linked
Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress, Recurrent respiratory ... OMIM:300991
Granulomatosis With Polyangiitis
Pleuritis, Cough, Subglottic stenosis, Elevated bronchoalveolar lavage fluid neutrophil proportio... OMIM:608710
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Conjunctivitis, B lymphocytopenia, Otitis media,... OMIM:601457
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Absent inner and outer dynein arms, Chronic rhinitis, Immotile cilia, Recurrent r... OMIM:618801
Ciliary Dyskinesia, Primary, 41
Impaired nasal mucociliary clearance, Recurrent sinusitis, Recurrent otitis media, Bronchiectasis OMIM:618449
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Dyspnea, Respiratory distress, Goiter, Dysphagia, Laryngotracheal s... ORPHA:142
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Dyspnea, Sea-blue histiocytosis, Splenomegaly, Diffuse reticular or finel... OMIM:607616
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Recurrent respiratory infections OMIM:219100
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency, Pulmonary fibrosis OMIM:617175
Ciliary Dyskinesia, Primary, 32
Bronchiectasis, Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Platyspondyly, Hyperlordosis, Anterior rib cupping, Genu valgum, Delayed pubic bone os... OMIM:184250
Pleuritis, Bronchiectasis, Cough, Pneumonia, Neutropenia, Abnormal tracheobronchial morphology, S... ORPHA:1163
Rudiger Syndrome
Ovarian cyst, Death in infancy, Bicornuate uterus, Micropenis, Depressed nasal bridge OMIM:268650
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia ORPHA:397685
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Distal Monosomy 10P
Cryptorchidism, Macrotia, Low-set, posteriorly rotated ears, Abnormality of the elbow, Polycystic... ORPHA:1580
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Sprengel anomaly, Cervical C2/C3 vertebral fusion... ORPHA:2345
Prematurely aged appearance, Premature graying of hair, Abnormal testis morphology, Aplasia/Hypop... ORPHA:100
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Abnormality of the larynx, Vaginal atresia, Aplasia/Hypoplasia of the lungs, Abno... ORPHA:3301
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Nasal polyposis, Cough, Chronic rhinitis, Chronic sinusitis, Recurrent respirator... OMIM:617092
Acrocapitofemoral Dysplasia
Scoliosis, Hyperlordosis, Short thorax, Narrow chest, Flared iliac wing, Pectus carinatum, Ovoid ... ORPHA:63446
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Enlarged joints, Pectus carinatum, Carpal bone hypoplas... OMIM:184252
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Cone-shaped epiphysis, Rib fusion, Synostosis of carpals/tarsals, C... OMIM:157800
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Recurrent respiratory ... OMIM:619126
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Narrow chest, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubi... OMIM:151210
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Reduced respiratory ciliary beating frequency, Bronchiectasis, Recurrent si... OMIM:617091
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Premature pubarche, Lumbar scoliosis, Irregular vertebral endplates, Secondary ame... OMIM:612847
Ciliary Dyskinesia, Primary, 3
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Neonatal respira... OMIM:608644
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Flat distal femoral epiphysis, Irregular epiphyses, Intervertebral disk ... OMIM:614135
Ciliary Dyskinesia, Primary, 14
Chronic sinusitis, Abnormal ciliary motility, Wheezing, Bronchiectasis, Ciliary dyskinesia, Absen... OMIM:613807
Perching Syndrome
Dysphagia, Respiratory distress, Feeding difficulties, Depressed nasal bridge OMIM:617055
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormality of the ribs, Short neck, Vertebral segmentation defect ORPHA:2578
Peritonitis, Cutaneous abscess, Pleuritis, Pericarditis, Thyroiditis, Pneumonia, Osteomyelitis, E... ORPHA:31204
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Vertebral fusion, Thin... OMIM:271520
Frontometaphyseal Dysplasia 2
Scoliosis, Cryptorchidism, Dislocated radial head, Broad nasal tip, Congenital hip dislocation, C... OMIM:617137
Whim Syndrome
Respiratory tract infection, Severe periodontitis, Bronchiectasis, Recurrent upper respiratory tr... ORPHA:51636
Ciliary Dyskinesia, Primary, 22
Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Recurrent sinusitis, Absent inner and outer ... OMIM:615444
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Acute pancreatitis, Abnormal pulmonary interstitial mor... ORPHA:178320
Immunodeficiency 62
Autoimmune thrombocytopenia, Bronchiectasis OMIM:618459
Hypomandibular Faciocranial Dysostosis
Abnormal morphology of female internal genitalia, Craniosynostosis, Short nose, Laryngeal hypopla... ORPHA:1790
Brachyolmia Type 1, Toledo Type
Broad tibial metaphyses, Back pain, Irregular vertebral endplates, Intervertebral space narrowing... OMIM:271630
Ciliary Dyskinesia, Primary, 19
Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Recurrent sinusitis, Absent inner and outer ... OMIM:614935
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary... OMIM:265450
Radio-Tartaglia Syndrome
Scoliosis, Bulbous nose, Narrow palpebral fissure, Downslanted palpebral fissures, Precocious pub... OMIM:619312
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finge... OMIM:607778
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Chronic sinusitis, Recurrent respiratory in... OMIM:612650
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Scoliosis, Cryptorchidism, Maturity-onset diabetes of the young, Feeding difficulties, Postnatal ... ORPHA:96184
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Platyspondyly, Limited elbow extension, Flared iliac wing, Ulnar bowing, Irregular... OMIM:602111
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent bronchitis, Bronchiectasis, Recu... OMIM:607594
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Polycystic ovaries, Reduced subcutaneous adipose t... ORPHA:280356
Ciliary Dyskinesia, Primary, 13
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Absent inner dynein arms, Absent outer ... OMIM:613193
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Respiratory distress, L... ORPHA:3392
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Respiratory failure, Aspirati... ORPHA:90117
Kuskokwim Syndrome
Scoliosis, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Aplasia/Hypoplasi... ORPHA:1149
Larsen Syndrome
Scoliosis, Cryptorchidism, Multiple carpal ossification centers, Dislocated wrist, Hypoplastic ce... OMIM:150250
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Decreased DLCO, Pulmonary venous occlusion, ... OMIM:234810
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Immunodeficiency 27A
Thrombocytosis, Increased inflammatory response, Leukocytosis, Salmonella osteomyelitis, Pneumoni... OMIM:209950
Congenital Hypothyroidism
Goiter, Abnormal eyelid morphology, Feeding difficulties in infancy, Palpebral edema, Anterior hy... ORPHA:442
Pleuritis, Pericarditis, Arthralgia/arthritis, Pulmonary fibrosis, Endocarditis, Decreased pulmon... ORPHA:449280
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bo... OMIM:608940
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Secondary amenorrhea, Short stature, Hypogonadotropic hypogonadism, Decreased... ORPHA:1643
Congenital Disorder Of Glycosylation, Type Iic
Bulbous nose, Bronchiolitis, Periodontitis, Recurrent otitis media, Pneumonia, Reduction of neutr... OMIM:266265
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Metatropic Dysplasia
Scoliosis, Platyspondyly, Enlarged joints, Anisospondyly, Long coccyx, Narrow chest, Kyphosis, Fl... OMIM:156530
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Acute infectious pneumonia, Respiratory failure requiring a... ORPHA:140896
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Postaxial hand polydactyly, Toe syndactyly, Narrow ch... ORPHA:474
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Atopic dermatitis, Recurrent bacterial skin infections, Recurrent sinusitis, C... ORPHA:217390
Cerebrofaciothoracic Dysplasia
Scoliosis, Narrow chest, Sprengel anomaly, Rib fusion, Hemivertebrae, Short neck, Vertebral segme... ORPHA:1394
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Achondrogenesis, Type Ii
Stillbirth, Broad long bones, Horizontal ribs, Absent vertebral body mineralization, Short ribs, ... OMIM:200610
Restrictive ventilatory defect, Dyspnea, Emphysema, Cough, Atelectasis, Chylothorax, Hemoptysis, ... ORPHA:538
Hypereosinophilic Syndrome, Idiopathic
Pulmonary infiltrates, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Restrictive ventilatory defect, Iridocyclitis, Dyspnea, Bron... OMIM:181000
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis OMIM:608957
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Scoliosis, Craniosynostosis, Tarsal s... ORPHA:95699
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Chronic ... OMIM:614017
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Abnormal sputum, Wheezing, Restrictive ventilatory defect, Respirator... ORPHA:1302
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Scoliosis, Delayed thelarche, Hyperinsulinemic hypoglycemia, Primary amenorrhea, Delayed puberty,... OMIM:616033
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Tracheomalacia, Wide nasal bridge, Laryngomalacia, Pulmonary hypoplasia, Pulmonary art... OMIM:613177
Diastrophic Dysplasia
Costal cartilage calcification, Hypoplastic cervical vertebrae, Neonatal short-limb short stature... OMIM:222600
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Duplicated lacrimal punctum, Female infertility, Secondary amenorrhea, Punctal stenosis, Elevated... ORPHA:572333
Short thorax, Enlarged thorax, Absent or minimally ossified vertebral bodies, Abnormal vertebral ... ORPHA:66637
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Acute infectious pneumonia, Respirat... ORPHA:264675
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Short nose, Respiratory distress, Posteriorly rotated ears, Delayed cranial suture closu... ORPHA:1832
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Short neck, Atlantoaxial instability, Limited elbow extension, Short thora... ORPHA:239
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Pituitary gonadotropic cell a... ORPHA:91348
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Supernumerary ribs, Vertebral segmentation defect OMIM:221950
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Pulmonary hypoplasia OMIM:615228
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Respiratory insufficiency OMIM:618042
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Scoliosis, Abnormality of the menstrual cycle, Goiter, Abnormal calcium-phosphate regulating horm... ORPHA:457059
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Abnormal clavicle morphology, Kyphosis, Pectus excavatum, Abnormal hip bone morpho... ORPHA:2522
Craniodiaphyseal Dysplasia
Abnormality of the ribs, Diaphyseal thickening ORPHA:1513
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormality of the ribs, Short neck, Abnorm... ORPHA:2234
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Hyperlordosis, Short thorax, Genu valgum, Coronal cleft vertebrae, Abnormal vertebral ... OMIM:618363
Craniofacioskeletal Syndrome
Cryptorchidism, Blepharophimosis, Hypoplastic frontal sinuses, Choanal atresia, Intrauterine grow... OMIM:300712
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Platyspondyly, Narrow chest, Abnormality of epiphysis morphology, B... ORPHA:93267
Thanatophoric Dysplasia, Type I
Narrow chest, Metaphyseal irregularity, Hypoplastic ilia, Wide-cupped costochondral junctions, Sh... OMIM:187600
Basilicata-Akhtar Syndrome
Feeding difficulties, Gastroesophageal reflux, Epicanthus, Abnormality of the pinna, Hearing impa... OMIM:301032
Juberg-Hayward Syndrome
Scoliosis, Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Abnormal vertebral mo... ORPHA:2319
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Congenital laryngeal stridor, Bronchiectasis ORPHA:2375
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche, Amenorrhea OMIM:145295
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Ciliary dyskinesia, Cough, Chronic rhinitis, Chronic sinusitis, Abnormal respirat... OMIM:614679
Smith-Magenis Syndrome
Scoliosis, Short nose, Abnormal form of the vertebral bodies, Conductive hearing impairment, Hypo... ORPHA:819
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Oligomenorrhea OMIM:604931
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Short thorax, Osteoarthritis, Abnormality of epiphysis morphology ORPHA:93283
Pulmonary opacity, Peritonitis, Bronchiectasis, Pneumonia, Maculopapular exanthema, Neutropenia, ... ORPHA:228119
Thoracomelic Dysplasia
Hyperlordosis, Genu valgum, Narrow chest, Elbow dislocation, Bell-shaped thorax, Short ribs, Abno... ORPHA:1803
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Osteogenesis Imperfecta, Type Xv
Scoliosis, Platyspondyly, Thin ribs OMIM:615220
Pulmonary hemorrhage, Respiratory distress, Pneumonia, Neutropenia, Thrombocytopenia, Giant plate... ORPHA:238459
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Scoliosis, Bulbous nose, Wide nasal bridge, Hearing impairment, Anteverted nares, Precocious puberty OMIM:300958
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Clitoral hyper... ORPHA:90795
Isolated Agammaglobulinemia
Skin rash, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Otitis media, T... ORPHA:229717
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Cough, Absent inner and outer dynein arms, Chronic otitis media, Neonatal respira... OMIM:618063
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Underdeveloped nasal alae, Micropenis, Upslanted palpebral fissure, Choanal atres... ORPHA:163979
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, ... OMIM:615633
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Narrow chest, Rib fusion, Hemivertebrae, Vertebral fusion, 11 pairs of ribs, Short neck ORPHA:94095
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Rib fusion, Hemivertebrae, Vertebral fusion, Supernumerary ribs, Missing ri... OMIM:206900
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Absent bronchoalveola... OMIM:265120
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Increased circulating gonadotropin level, Abdominal pain, Pleural effusion, Hemorrh... ORPHA:64739
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Beaking of vertebral bodies, Hip osteoarthritis, Irregular vertebral endplates, Sc... OMIM:604864
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Bronchiectasis, Lymphopenia, Chron... OMIM:617514
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone... OMIM:177170
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of the ribs, Slender long bone, Abnormality of pelvic girdle bone morphology ORPHA:1506
Temple Syndrome
Scoliosis, Cryptorchidism, Nasogastric tube feeding, Feeding difficulties, Postnatal growth retar... ORPHA:254516
Ciliary Dyskinesia, Primary, 7
Restrictive ventilatory defect, Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Re... OMIM:611884
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Proximal femoral metaphyseal irregularity, Thoracic hypoplasia, Irregular iliac cr... ORPHA:168549
Fraser Syndrome
Cryptorchidism, Underdeveloped nasal alae, Atresia of the external auditory canal, Scrotal hypopl... ORPHA:2052
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent sinusitis, ... OMIM:616576
Myotonia With Skeletal Abnormalities And Mental Retardation
Genu valgum, Pectus carinatum, Bell-shaped thorax, Kyphoscoliosis, Vertebral wedging, Irregular f... OMIM:255710
Cardiocranial Syndrome, Pfeiffer Type
Cryptorchidism, Contracture of the proximal interphalangeal joint of the 2nd finger, Low-set, pos... ORPHA:2872
Ciliary Dyskinesia, Primary, 25
Chronic pulmonary obstruction, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Immotile ... OMIM:615482
Immunodeficiency 60
Bronchiectasis, Pulmonary fibrosis, Decreased proportion of memory B cells, Decreased basophil co... OMIM:618394
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Bronchiectasis, Increas... OMIM:615513
Bone Dysplasia, Lethal, Holmgren Type
Bell-shaped thorax, Short ribs, Narrow chest OMIM:211120
Kleefstra Syndrome Due To A Point Mutation
Uplifted earlobe, Abnormal shape of the palpebral fissure, Gastroesophageal reflux, Tracheomalaci... ORPHA:261652
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Absent inner and outer... OMIM:606763
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Flared iliac wing, Flared femoral metaphysis, Coxa var... OMIM:183849
Cryptorchidism, Low-set, posteriorly rotated ears, Tracheal atresia, Laryngomalacia, Abnormal fal... ORPHA:2189
Ovarian Fibrothecoma
Peritonitis, Abnormality of the ovary, Abdominal pain, Pleural effusion, Abnormality of the endom... ORPHA:314478
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Abnormality of the elbow, Slender long bone, Abnormal hip ... ORPHA:1486
Luscan-Lumish Syndrome
Irregular menstruation, Polycystic ovaries, Short stature, Downslanted palpebral fissures, Advanc... OMIM:616831
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Chronic pulmonary obstruction, Bronchiectasis, Pulmonary fibros... OMIM:618986
Pallister-Hall Syndrome
Cryptorchidism, Atresia of the external auditory canal, Choanal atresia, Hemivertebrae, Decreased... OMIM:146510
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Rocker bottom foot, Dislocated radial head, Axillary pterygium, Anterior clefting of v... OMIM:265000
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Eosinophilia, Chronic mucocutaneous ca... OMIM:618282
Meier-Gorlin Syndrome 6
Short nose, Underdeveloped nasal alae, Emphysema, Laryngomalacia, Tracheobronchomalacia, Antevert... OMIM:616835
Pontine Tegmental Cap Dysplasia
Scoliosis, Rib fusion, Ankle clonus, Hemivertebrae OMIM:614688
Autosomal Dominant Hyper-Ige Syndrome
Skin rash, Osteomyelitis, Cough, Chronic otitis media, Atelectasis, Wide nasal bridge, Eczema, Re... ORPHA:2314
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Cystic Echinococcosis
Ovarian cyst, Abnormality of the testis size, Pulmonary cyst, Jaundice, Multiple pulmonary cysts,... ORPHA:400
Xp22.13P22.2 Duplication Syndrome
Scoliosis, Recurrent upper respiratory tract infections, Macroorchidism, Polycystic ovaries, Hear... ORPHA:284180
Fibrochondrogenesis 2
Platyspondyly, Thoracic hypoplasia, Hypoplastic ilia, Bell-shaped thorax, Metaphyseal cupping, Sh... OMIM:614524
Smith-Lemli-Opitz Syndrome
Scoliosis, Cryptorchidism, Choanal atresia, Sensorineural hearing impairment, Cutis marmorata, Do... ORPHA:818
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Neutropenia, Recurrent pneumonia, Recurrent respirator... OMIM:613502
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Cryptorchidism, Microphallus, Growth delay, Abnormal tracheobronchial morphology, Sagittal cranio... OMIM:218450
Avian Influenza
Ground-glass opacification, Dyspnea, Respiratory distress, Abdominal pain, Pleural effusion, Coug... ORPHA:454836
Smith-Mccort Dysplasia 1
Scoliosis, Platyspondyly, Atlantoaxial instability, Prominent sternum, Multicentric femoral head ... OMIM:607326
Diastrophic Dwarfism
Scoliosis, Abnormal clavicle morphology, Hip dysplasia, Camptodactyly of finger, Hypoplastic cerv... ORPHA:628
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Ciliary Dyskinesia, Primary, 37
Infertility, Wheezing, Goiter, Bronchiectasis, Hypothyroidism, Rhinorrhea, Hearing impairment, Ch... OMIM:617577
19P13.12 Microdeletion Syndrome
Scoliosis, Cryptorchidism, Craniosynostosis, Conductive hearing impairment, Hypothyroidism, Kypho... ORPHA:254346
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Leukocyt... ORPHA:90060
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent otitis media,... OMIM:619220
Cartilage-Hair Hypoplasia
Scoliosis, Hyperlordosis, Limited elbow extension, Biconvex vertebral bodies, Abnormal form of th... ORPHA:175
Fraser Syndrome 3
Abnormal lung lobation, Scrotal hypoplasia, Tracheal atresia, Wide nose, Cryptophthalmos OMIM:617667
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Scoliosis, Infantile sensorineural hearing impairment, Respiratory distress, Ventilator dependenc... ORPHA:254875
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Impotence, Hypopituitarism, Pituitary hypothyroidism, Adrenocorticotropic hormone... ORPHA:91354
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Abnormal form of the vertebral bodies, Overfolded helix, Choanal a... ORPHA:2759
Holt-Oram Syndrome
Scoliosis, Abnormal clavicle morphology, Broad thumb, Radioulnar synostosis, Finger syndactyly, S... ORPHA:392
Achondrogenesis, Type Ia
Hypoplasia of the radius, Unossified vertebral bodies, Short neck, Stillbirth, Hypoplastic scapul... OMIM:200600
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax, Eosinophilic infiltration of the esophagus OMIM:614816
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis, Aspirin-induced asthma, Asthma OMIM:208550
Keutel Syndrome
Recurrent bronchitis, Emphysema, Recurrent otitis media, Peripheral pulmonary artery stenosis, Pu... OMIM:245150
Ciliary Dyskinesia, Primary, 24
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis OMIM:615481
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Broad ribs, Biconcave vertebral bodies, Short ribs, Short humerus, Short clavicles, Pr... OMIM:610319
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic iliac wing, T... OMIM:300863
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Leukodystrophy, Hypomyelinating, 17
Respiratory distress, Feeding difficulties, Short stature, Kyphoscoliosis, Anteverted nares OMIM:618006
Progressive Pseudorheumatoid Arthropathy Of Childhood
Scoliosis, Irregularity of vertebral bodies, Abnormal ilium morphology, Abnormal hip joint morpho... ORPHA:1159
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Shield chest, Barrel-shaped chest, Hip osteoarthritis, Kyphosis, Irregu... OMIM:313400
Caspase 8 Deficiency
Pneumonia, Recurrent sinopulmonary infections, Decreased CD4:CD8 ratio, Asthma, Splenomegaly, Eczema OMIM:607271
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Bronchiectasis, Recurrent sinusitis, Pneumoni... OMIM:615207
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Megaloblastic anemia, Emphysema, Wide nasal bridge, Recurrent bronchopulmonary infections, Gastri... OMIM:219721
Farber Disease
Abnormality of the knee, Respiratory distress, Joint swelling, Recurrent upper respiratory tract ... ORPHA:333
Ciliary Dyskinesia, Primary, 1
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Chronic otitis media, Pne... OMIM:244400
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Abnormality of limb bone morphology, Sprengel anomaly, Cervical C2/C3 vertebral fusion... OMIM:118100
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Pulmonary edema, Abnormal blood gas level, Pancreatitis,... ORPHA:70578
Severe Combined Immunodeficiency, X-Linked
Skin rash, T lymphocytopenia, Chronic oral candidiasis, Impaired lymphocyte transformation with p... OMIM:300400
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Respiratory distress, Protuberant abdomen, Decreased circulating T4 level, Constipation, ... ORPHA:226313
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent upper respiratory tract infections, Productive cough, Neonatal respirat... OMIM:618699
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Epicanthus, Hypoxemia, Abnormal pul... ORPHA:2257
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Platyspondyly, Hip dysplasia, Limited elbow extension, Dislocated radial head, Abnorma... ORPHA:93359
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormality of the ribs, Pectus excavatum, Hypoplastic distal segments of scapulae OMIM:602196
Rabson-Mendenhall Syndrome
Long penis, Anteverted nares, Premature graying of hair, Enlarged ovaries, Hypothyroidism, Clitor... ORPHA:769
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Pectus carinatum, Barrel-shaped chest, Irregular vertebral endplates, Lumbar hyper... OMIM:184100
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Sandal gap, Ab... ORPHA:2180
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetab... ORPHA:750
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Metaphyseal irregularity, Central vertebral hypoplasia, Bell... OMIM:602557
Autosomal Recessive Cutis Laxa Type 1
Pyelonephritis, Emphysema, Peripheral pulmonary artery stenosis, Respiratory insufficiency, Recur... ORPHA:90349
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Pleural effusion, Respiratory insufficiency, Atelectasis, Thrombocytopenia, Conjunc... ORPHA:340
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Low-set, posteriorly rotated ears, Postnatal growth retardation, Intrauterine growth retardation,... ORPHA:254525
Spondylometaphyseal Dysplasia, Algerian Type
Anterior rib cupping, Platyspondyly, Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Fla... OMIM:184253
Gaucher Disease Type 2
Respiratory distress, Dysphagia, Cough, Abnormal pattern of respiration, Recurrent respiratory in... ORPHA:77260
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Platyspondyly, Wormian bones, Prominent sternum, Flared iliac wing, Thoraci... OMIM:300232
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent upper respira... OMIM:608184
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Carpenter Syndrome 1
Scoliosis, Cryptorchidism, Genu valgum, Lambdoidal craniosynostosis, Conductive hearing impairmen... OMIM:201000
White Forelock With Malformations
Finger syndactyly, Sprengel anomaly, Spina bifida occulta, Abnormality of the ribs, Clinodactyly ... ORPHA:2475
Greenberg Dysplasia
Platyspondyly, Narrow chest, Abnormal form of the vertebral bodies, Anterior rib punctate calcifi... ORPHA:1426
Mccune-Albright Syndrome
Scoliosis, Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated... ORPHA:562
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, T lymphocytopenia, Bronchiectasis, Reduced natura... OMIM:618108
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu valgum, Delayed pubic bone ossification, Metaphyseal irregularity, Enlarged epiphyses, Hypop... OMIM:613330
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Shield chest, Thoracic kyphosis, Carpal bone hypoplasia, Camptodacty... OMIM:223800
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Recurrent upper respiratory tract infections, Recurrent sinusitis, Colitis, Abn... OMIM:613101
Choanal Atresia
Craniosynostosis, Respiratory distress, Feeding difficulties, Abnormal nasal mucus secretion, Tra... ORPHA:137914
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Bronchiectasis, Autoimmune thrombocytopenia, Recurrent otitis media, Recurr... OMIM:300853
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Feeding difficulties, Postnatal growth retardation, Hearing impairment, Pul... OMIM:616733
Lung abscess, Respiratory tract infection, Prostatitis, Cutaneous abscess, Splenic abscess, Acute... ORPHA:31202
Geleophysic Dysplasia 1
Camptodactyly of finger, Thickened helices, Short nose, Upslanted palpebral fissure, Wrist flexio... OMIM:231050
Primary Effusion Lymphoma
Pleural effusion, Dyspnea, Abdominal distention, Abdominal pain ORPHA:48686
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Sclerotic vertebral body, Metatarsal diaphyseal endost... OMIM:144750
Hydrolethalus Syndrome 1
Bifid uterus, Abnormal vagina morphology, Stillbirth, Laryngeal hypoplasia, Adrenal gland dysgene... OMIM:236680
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Short nose, Bronchiectasis, Pneumonia, Reduced natural killer cell count, Sinu... OMIM:242860
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Scoliosis, Pectus excavatum, Short ribs, Pseudoarthrosis, Missing ribs OMIM:618155
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Respiratory distress OMIM:245590
Panbronchiolitis, Diffuse
Wheezing, Bronchiectasis, Cough, Crackles, Hypoxemia, Rhonchi OMIM:604809
Abnormality of the endocrine system, Abdominal pain, Irregular menstruation, Macroorchidism, Incr... ORPHA:180229
Mosaic Trisomy 14
Abnormality of the ribs, Camptodactyly of finger, Short neck, Narrow chest ORPHA:1703
Congenital laryngeal stridor, Respiratory distress, Abnormal trachea morphology, Laryngomalacia OMIM:150280
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Platyspondyly, Short thorax, Genu valgum, Enlarged joints, Narrow chest, Abnormality o... ORPHA:93314
Fibrochondrogenesis 1
Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Short neck, Thin clavicles, Post... OMIM:228520
Esophageal Atresia
Scoliosis, Laryngotracheomalacia, Choanal atresia, Vomiting, Cyanosis, Abnormal external genitali... ORPHA:1199
Immunodeficiency 72 With Autoinflammation
Bronchiectasis, Recurrent otitis media, Increased B cell count, Increased proportion of memory T ... OMIM:618982
Osteogenesis Imperfecta, Type Xvi
Beaded ribs, Vertebral compression fracture OMIM:616229
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Craniosynostosis, Hand polydactyly, Abnormal vertebral morphology, Rib fusion ORPHA:261197
Ollier Disease
Platyspondyly, Abnormal cartilage morphology, Precocious puberty, Multiple enchondromatosis ORPHA:296
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Primary amenorrhea, Polycystic ovaries, Insu... OMIM:604367
Donohue Syndrome
Ovarian cyst, Long penis, Hyperinsulinemia, Macrotia, Postnatal growth retardation, Abdominal dis... OMIM:246200
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Constipation, Elevat... ORPHA:95716
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Respiratory insufficiency, Atelectasis... OMIM:618278
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Periodontitis, Lymphopenia, Leukemia, Pneumonia, Neutropenia, Recurrent sinopulmonar... ORPHA:486
Camptodactyly of finger, Broad ribs, Narrow chest, Abnormal form of the vertebral bodies, Hypopla... ORPHA:2021
Mucopolysaccharidosis Type 4
Scoliosis, Platyspondyly, Hyperlordosis, Short thorax, Genu valgum, Abnormality of epiphysis morp... ORPHA:582
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Metaphyseal irregularity, Carpal bone hypoplasia, Genu valgum, Narrow iliac wing, Meta... OMIM:250420
Whim Syndrome 1
Neutropenia, Bronchiectasis, Recurrent upper respiratory tract infections OMIM:193670
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Decreased proportion of CD3-positive T cells, Lymphopenia... ORPHA:169160
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Precocious puberty in females, ... ORPHA:528
Laryngotracheoesophageal Cleft
Dyspnea, Aspiration, Cough, Laryngeal cleft, Laryngomalacia, Neonatal respiratory distress, Impai... ORPHA:2004
Proteus-Like Syndrome
Subcutaneous lipoma, Thymus hyperplasia, Genu recurvatum, Polycystic ovaries, Bronchogenic cyst, ... ORPHA:2969
Silver-Russell Syndrome
Scoliosis, Cryptorchidism, Abnormal vagina morphology, Feeding difficulties, Premature adrenarche... ORPHA:813
Achondrogenesis Type 1B
Short thorax, Narrow chest, Short foot, Abnormality of the ribs, Short neck ORPHA:93298
Immunodeficiency 77
Cutaneous abscess, Chronic pulmonary obstruction, Bronchiectasis OMIM:619223
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Bifid distal phalanx of toe, Broad thumb, Short digit, Short neck,... OMIM:268310
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent upper respiratory tract infections, Primary amenorrhea, Recurre... OMIM:614962
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:97330
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Pulmonary fibrosis, Streak ovary, Primary amenorrhea, A... ORPHA:243
Scoliosis, Hyperlordosis, Short toe, Abnormal form of the vertebral bodies, Abnormality of the el... ORPHA:429
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Septopreoptic Holoprosencephaly
Abnormality of the ribs, Abnormal vertebral morphology ORPHA:280195
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Chronic oral candidiasis, Bronchiectasis, ... OMIM:150550
Moebius Syndrome
Respiratory distress, Abnormal nasopharynx morphology, Dysphagia, Epicanthus, Abnormality of the ... OMIM:157900
Respiratory tract infection, Wheezing, Respiratory distress, Gastrointestinal obstruction, Abdomi... ORPHA:1549
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Multiple pterygia, Camptodactyly of finger, Axillary pterygium, Finger syndactyly, Abn... ORPHA:2990
Grant Syndrome
Wormian bones, Abnormality of the glenoid fossa, Narrow chest, Sprengel anomaly, Bowing of the lo... ORPHA:2097
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Abnormal pulmonary interstitial morphology, Short stature, ... OMIM:617180
Ciliary Dyskinesia With Excessively Long Cilia
Recurrent bronchitis, Ciliary dyskinesia, Nasal polyposis, Airway obstruction, Chronic rhinitis, ... OMIM:242680
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Gastroesophageal re... ORPHA:2414
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Premature pubarche, Joint contractures involving the joints of the feet, Gastroes... ORPHA:457205
Congenital Factor Vii Deficiency
Ovarian cyst, Joint hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Menorrhagia, Bruising sus... ORPHA:327
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Pneumonia, Otitis media, Recurrent upper respiratory tract infections OMIM:602450
Anti-Glomerular Basement Membrane Disease
Cough, Respiratory insufficiency, Anemia, Hemoptysis, Pulmonary infiltrates, Arthritis ORPHA:375
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Wormian bones, Beaded ribs, Broad long bones, Crumpled long bones, Tibial bowing, ... OMIM:166210
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Tibial bowing, Abnormally ossified vertebrae, Lower limb... ORPHA:3035
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Postaxial hand polydactyly, Toe syndactyly, Abnormality of epiphys... ORPHA:3082
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the pulmonary artery, Emphysema ORPHA:363618
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Cryptorchidism, Limited elbow extension, Anteverted nares, Feeding difficu... OMIM:300882
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Ascher Syndrome
Goiter, Abnormal eyelid morphology, Blepharophimosis, Hypothyroidism, Ptosis, Upper eyelid edema,... ORPHA:1253
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Cough, Respiratory insufficiency, Abnormal pulmonary interstitial morphology, Pancytop... OMIM:613658
Mucopolysaccharidosis, Type Iva
Scoliosis, Platyspondyly, Hyperlordosis, Prominent sternum, Genu valgum, Constricted iliac wing, ... OMIM:253000
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infect... OMIM:215520
Melnick-Needles Syndrome
Scoliosis, Short thorax, Anisospondyly, Narrow chest, Bowing of the long bones, Short distal phal... ORPHA:2484
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Polycystic ovaries, Secondar... OMIM:268020
Lymphangiectasia, Intestinal
Prominent floating ribs, Stillbirth OMIM:152800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
3M Syndrome
Scoliosis, Hyperlordosis, Increased vertebral height, Short thorax, Scapular winging, Congenital ... ORPHA:2616
Timothy Syndrome
Bronchitis, Pneumonia, Depressed nasal bridge OMIM:601005
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Hypoplasia of the epiglottis, Broad nasal tip OMIM:300484
Phaver Syndrome
Camptodactyly of finger, Broad thumb, Radioulnar synostosis, Abnormal form of the vertebral bodie... ORPHA:2876
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Limited elbow extension, Disproportionate short stature, Upslanted palpebral fissure, Distal symp... OMIM:210720
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Ciliary Dyskinesia, Primary, 6
Abnormal ciliary motility, Ciliary dyskinesia, Recurrent sinusitis, Sinusitis, Abnormal respirato... OMIM:610852
Mucolipidosis Iii Gamma
Scoliosis, Hyperlordosis, Genu valgum, Flared iliac wing, Pectus carinatum, Kyphosis, Abnormal ri... OMIM:252605
Koolen-De Vries Syndrome Due To A Point Mutation
Pear-shaped nose, Cryptorchidism, Scoliosis, Craniosynostosis, Bulbous nose, Underdeveloped nasal... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pear-shaped nose, Cryptorchidism, Scoliosis, Craniosynostosis, Bulbous nose, Underdeveloped nasal... ORPHA:363958
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Neutropenia in presence... ORPHA:231154
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Crackles... ORPHA:747
Bruck Syndrome 1
Scoliosis, Platyspondyly, Protrusio acetabuli, Pectus carinatum, Kyphosis, Coxa vara, Pterygium, ... OMIM:259450
Familial Glucocorticoid Deficiency
Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res... ORPHA:361
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Scoliosis, Central sleep apnea, Craniosynostosis, Hypoparathyroidism, Upslanted palpebral fissure... ORPHA:369837
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Feeding difficulties, Bulbous nose, Macrotia, Wide nasal bridge, Aplasia/Hy... ORPHA:261304
Fraser-Like Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Ovarian cyst, Subglottic ste... OMIM:229230
Peritonitis, Pericarditis, Cough, Neutropenia, Sinusitis, Myocarditis, Air crescent sign, Endocar... ORPHA:73263
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the ribs, Abnormal clavicle morphology ORPHA:276422
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the ribs, Sprengel anomaly, Abnormality of the vertebral column OMIM:601076
Craniofaciofrontodigital Syndrome
Abnormal thumb morphology, Narrow chest, Abnormal hip bone morphology, Abnormality of the ribs, A... ORPHA:363705
Femoral-Facial Syndrome
Scoliosis, Short fifth metatarsal, Preaxial hand polydactyly, Humeroradial synostosis, Radioulnar... OMIM:134780
Optic Pathway Glioma
Vomiting, Growth delay, Nausea, Precocious puberty ORPHA:2086
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia OMIM:274210
Neonatal Alloimmune Neutropenia
Pneumonia, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Uterine neoplasm, Anorexia, Jaundice, Abdominal distention, Metrorrhagia, Neopl... ORPHA:370348
Yellow Nail Syndrome
Pleuritis, Dyspnea, Bronchiectasis, Cough, Rhinitis, Neoplasm of the lung, Sinusitis, Pulmonary a... ORPHA:662
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Recurrent upper respiratory tract infections, Pneumonia, Anteverted nares, Wide nose OMIM:300209
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly, Pulmonary infiltrates, Blepharitis ORPHA:158029
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Feeding difficulties, Narrow palpebral fissure, Aplasia... ORPHA:3426
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Hip subluxation, Scrotal hypoplasia, Bicornuate uterus, Vomiting, Severe photosen... OMIM:270400
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Dyspnea, Widening of cervical spinal canal, Respiratory insufficiency, Cervical vertebral bodies ... OMIM:606842
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Acrodysplasia Scoliosis
Scoliosis, Brachydactyly, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Mucopolysaccharidosis, Type Ivb
Scoliosis, Platyspondyly, Hyperlordosis, Prominent sternum, Genu valgum, Constricted iliac wing, ...