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Gene: Hoxa5 MGI:96177

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hoxa5 mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis medi... OMIM:604571
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis, Otitis media OMIM:300455
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... ORPHA:79127
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... OMIM:613490
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Cervical Rib
Cervical ribs OMIM:117900
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema, Increased proportion of exhausted T cells OMIM:618307
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interst... OMIM:612387
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... ORPHA:3268
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Hemivertebrae, Short r... OMIM:173800
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatitis ORPHA:60
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Abnormal bronchus morphology, Pneumonia, Bronchitis, Productive... ORPHA:3348
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Autosomal Dominant Spondylocostal Dysostosis
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... OMIM:613953
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B... OMIM:242700
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Recurrent otitis media, R... OMIM:620321
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... OMIM:184255
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... ORPHA:70588
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... ORPHA:2902
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... ORPHA:64755
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Ground-... ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Ground-glass opacification, Dyspnea, Plasmacytosis, Cough ORPHA:60026
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Asplenia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immo... OMIM:244400
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Narrow chest, Abnormal ... ORPHA:1354
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Mounier-Kühn Syndrome
Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T... ORPHA:3347
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu... ORPHA:2790
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... OMIM:618695
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Coxa vara, Short palm ORPHA:168555
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough ORPHA:930
Pulmonary Blastoma
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Pulmonary infiltrates, Cough ORPHA:64741
Hypophosphatasia
Anemia, Emphysema, Respiratory insufficiency ORPHA:436
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Femoral-Facial Syndrome
Short femur, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Coxa vara, Abnormal... ORPHA:1988
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax... ORPHA:1801
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiectasis, Decreased nas... OMIM:612444
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... ORPHA:93304
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Tracheal atresia, Respiratory insufficiency OMIM:601612
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Jung Syndrome
Recurrent respiratory infections, Telecanthus, Abnormal form of the vertebral bodies, Tracheal st... ORPHA:2321
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... OMIM:613686
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... ORPHA:244
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Immunodeficiency 13
Lymphopenia, Nasal polyposis, Recurrent upper respiratory tract infections, Bronchiolitis obliter... OMIM:615518
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Pulmonary fibrosis, Emphysema, Lymphopenia, Thrombocytopenia OMIM:620365
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Hypochromic microcytic anemia, Crohn... OMIM:619632
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... OMIM:617405
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Narrow greater sciatic notc... OMIM:156530
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... ORPHA:2311
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Tracheal atresia, Respiratory insufficiency ORPHA:3346
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... OMIM:615505
Immunodeficiency 104
Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Otitis med... OMIM:608971
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Gro... OMIM:619611
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Idiopathic Pulmonary Fibrosis
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... ORPHA:2032
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal rib morpholo... ORPHA:2635
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... ORPHA:40
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Tachypnea, Tracheal calcification, Gastroesophageal reflux, Hypoplastic cervic... ORPHA:79345
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Flat capital femoral epiphysis, Pectus carinatum, Genu valgum, Irregular ve... OMIM:609223
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Common Variable Immunodeficiency
Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen... ORPHA:1572
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Lymphopenia OMIM:247800
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... OMIM:271650
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Hypomandibular Faciocranial Dysostosis
Recurrent respiratory infections, Death in infancy, Craniosynostosis, Upslanted palpebral fissure... ORPHA:1790
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Dyspnea, Splenomegaly, Emphysema, Uveitis, Restrictive ventilatory defec... ORPHA:36412
Pendred Syndrome
Hyperparathyroidism, Sensorineural hearing impairment, Hypoplasia of the cochlea, Respiratory ins... ORPHA:705
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of... OMIM:608728
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Precocious puberty, Sensorineural hearing impairment, Aplasia/H... ORPHA:2637
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Abnormal pleura morphology, Respiratory insufficiency, Pulmonary ... ORPHA:724
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Immunodeficiency 48
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczem... OMIM:269840
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Cough, Wheezing... OMIM:613808
Vacterl/Vater Association
Bifid scrotum, Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplas... ORPHA:887
Granulomatosis With Polyangiitis
Subglottic stenosis, Sinusitis, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Resp... OMIM:608710
Fibrochondrogenesis 2
Thoracic hypoplasia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone,... OMIM:614524
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morphology, Short me... ORPHA:93351
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Abnormality of the ankle, Bilateral coxa valga, Abnormal ... ORPHA:163665
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Asthma, Erythroderma, Emphysema ORPHA:634
Keutel Syndrome
Recurrent respiratory infections, Short stature, Pulmonary artery stenosis, Recurrent sinusitis, ... ORPHA:85202
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ... OMIM:620233
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis ORPHA:896
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Wormian bone... OMIM:259440
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro... OMIM:620032
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Abnormally ossified vertebrae, Cryptorchidism, Abnormal lung lobati... ORPHA:3301
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Bronch... OMIM:615500
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Hyperlordosis, Cryptorchidism, Sensorineural heari... ORPHA:3085
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Narrow... OMIM:602271
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip dislocation, ... OMIM:618395
Spondyloepimetaphyseal Dysplasia, Shohat Type
Laryngeal stenosis, Severe short stature, Abnormal bronchus morphology, Hyperlordosis, Abdominal ... ORPHA:93352
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Laryngotracheal stenosis, Tracheoesophageal fistula, Upper airway ... ORPHA:142
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Short stature, External genital hypoplasi... OMIM:615993
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98754
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein arms, Immotile ci... OMIM:618801
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Nasal polyposis, Cough, Absent outer dynein arms, Asthma, Bronc... OMIM:616037
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98793
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... OMIM:608647
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177904
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... OMIM:614135
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Short stature, Kyphoscoliosis, Secondary amenorrhea, Irregular vertebral endplates, Platyspondyly... OMIM:612847
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Microlissencephaly
Pneumonia ORPHA:1083
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177901
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Hurler-Scheie Syndrome
Recurrent respiratory infections, Short stature, Camptodactyly of finger, Kyphosis, Contracture o... OMIM:607015
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Telecanthus, Neonatal respiratory distress, Hypospadias, Abnormal pinna mor... OMIM:217980
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
19P13.3 Microduplication Syndrome
Epicanthus, Telecanthus, Unilateral cryptorchidism, Posteriorly rotated ears, Kyphoscoliosis, Pre... ORPHA:447980
Diaphanospondylodysostosis
Short neck, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or minimally ... ORPHA:66637
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Cough,... OMIM:613807
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Hyper... ORPHA:63446
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein ... OMIM:614935
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:300991
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared metaphysis, Co... OMIM:602111
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Respiratory distress, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bi... OMIM:300219
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr... OMIM:617091
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit... ORPHA:51636
Geleophysic Dysplasia 3
Subglottic stenosis, Short stature, Pneumonia, Limited elbow movement, Limited wrist movement, Dy... OMIM:617809
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... OMIM:271630
Ataxia-Telangiectasia
Recurrent respiratory infections, Diabetes mellitus, Prematurely aged appearance, Telangiectasia ... ORPHA:100
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... OMIM:184252
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa vara, Tibial bo... OMIM:608940
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Abnormal circulating hormone concentration... ORPHA:280356
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect... OMIM:617092
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... ORPHA:1394
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Recurrent sin... OMIM:613193
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Bronchiectasis, ... OMIM:614679
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Xp22.3 Microdeletion Syndrome
Short stature, Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycyst... ORPHA:1643
Kuskokwim Syndrome
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Abnormal form of the vertebral b... ORPHA:1149
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndac... ORPHA:166024
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Atelectasi... OMIM:306400
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,... OMIM:615444
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Temple Syndrome
Short stature, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptor... ORPHA:254516
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:608644
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Hypoplasia of penis, Decreased response to growth hormone stimulation test, Congenital hypothyroi... OMIM:601427
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... OMIM:176270
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... ORPHA:474
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2234
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic e... OMIM:617638
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Gastroesophageal ref... ORPHA:398069
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... ORPHA:1570
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Bone-marrow foam cells, Dyspnea, Thrombocytopenia, Splenomegaly... OMIM:607616
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema OMIM:219100
Frontometaphyseal Dysplasia 2
Subglottic stenosis, Hip contracture, Congenital hip dislocation, Abnormal pinna morphology, Feed... OMIM:617137
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Abnormal pinna morphology, Kyphoscoliosis, Rhizomelia, Sparse eyebrow, Postnata... OMIM:302960
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... OMIM:615633
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys... ORPHA:133
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Tracheomalacia, Multiple joint dislocation, Abnormal cartilage matrix, Respira... OMIM:245650
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot... OMIM:614017
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Bronchie... OMIM:619126
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Short neck, ... ORPHA:93267
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Abnormal finger m... ORPHA:2319
Pontine Tegmental Cap Dysplasia
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Abnormal rib... ORPHA:2522
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... OMIM:614370
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Atelectasis, Co... ORPHA:2314
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... ORPHA:31204
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... ORPHA:64744
Thoracomelic Dysplasia
Short neck, Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... ORPHA:1803
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Pectus carinat... OMIM:613330
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho... OMIM:255710
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... OMIM:601457
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Epicanthus, Precocious puberty, Cryptorchidism, Synophrys, Fee... ORPHA:3306
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Iron deficiency anemia, Pulmonary... OMIM:178550
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Ptosis, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Aspergillosis
Sinusitis, Diffuse reticular or finely nodular infiltrations, Neutropenia, Cough, Infectious ence... ORPHA:1163
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility,... OMIM:266265
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachyp... ORPHA:36238
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... OMIM:222600
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu... OMIM:615482
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... OMIM:269250
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl... OMIM:604864
Fraser Syndrome
Subglottic stenosis, Laryngeal stenosis, Hypoplasia of penis, Small scrotum, Abnormal lung lobati... ORPHA:2052
Pseudoachondroplasia
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarth... OMIM:177170
Immunodeficiency, Common Variable, 1
Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence of anti-neu... OMIM:607594
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Respiratory insufficiency, Tracheoesophageal fistula, Abnormal form of the ver... ORPHA:93941
Holt-Oram Syndrome
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... ORPHA:392
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bod... ORPHA:1486
Cutis Laxa, Autosomal Dominant 1
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Kyphoscoliosis, Short neck, Squared iliac bones, Small hand, Rib fusion, Hypo... OMIM:611209
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis OMIM:608957
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Feeding difficulties in infancy, Abnormal lung lobation, Abnormal form of th... ORPHA:818
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Nasal polyposis, Decreased nasal nitric oxide, Bronchiectasis, ... OMIM:620197
Fraser Syndrome 3
Hypoplasia of penis, Small scrotum, Abnormal lung lobation, Stillbirth, Low-set ears, Cryptophtha... OMIM:617667
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Ab... OMIM:618063
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Dyspnea, Iridocyclitis, Emphysema, Splenomegaly, Bronchiectasis, Abnormal pulmonary... OMIM:181000
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finge... ORPHA:628
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Pulmonary infiltrates, Rest... ORPHA:538
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... ORPHA:217390
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Knee flexion contracture, Intercrural pterygium, Camptodactyly of toe, Pterygium, Dis... OMIM:265000
Larsen Syndrome
Cervical kyphosis, Knee dislocation, Shallow orbits, Conductive hearing impairment, Spina bifida ... OMIM:150250
Distal Deletion 10P
Low-set, posteriorly rotated ears, Hypoplasia of penis, Short stature, Cryptorchidism, Abnormalit... ORPHA:1580
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Microcephaly 30, Primary, Autosomal Recessive
Epicanthus, Uplifted earlobe, Long palpebral fissure, Tracheal stenosis, Intrauterine growth reta... OMIM:620183
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... OMIM:209950
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Ground-glass opaci... OMIM:300770
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthrosis OMIM:618155
Isolated Agammaglobulinemia
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn... ORPHA:229717
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat acetabular roof, Short r... OMIM:151210
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Bronchiectasi... OMIM:606763
Scedosporiosis
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... ORPHA:449280
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Temple Syndrome
Posteriorly rotated ears, Short stature, Maturity-onset diabetes of the young, Precocious puberty... OMIM:616222
Tularemia
Respiratory distress, Brain abscess, Abnormal pulmonary thoracic imaging finding, Skin rash, Pneu... ORPHA:3392
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytope... OMIM:226990
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Epicanthus, Neonatal respiratory distress, Apnea, Cyanosis, Ast... ORPHA:2257
Radio-Tartaglia Syndrome
Epicanthus, Highly arched eyebrow, Long eyebrows, Precocious puberty, Conductive hearing impairme... OMIM:619312
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Pulmonary fibrosis, Secondary amenorrhea, Goiter OMIM:617175
Xp22.13P22.2 Duplication Syndrome
Short stature, Recurrent upper respiratory tract infections, Polycystic ovaries, Scoliosis, Macro... ORPHA:284180
Perching Syndrome
Respiratory distress, Cyanosis, Feeding difficulties, Scoliosis, Dysphagia OMIM:617055
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Feeding d... ORPHA:254531
Silver-Russell Syndrome
Abnormality of male external genitalia, Low-set, posteriorly rotated ears, Hypospadias, Short sta... ORPHA:813
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Rib fusion, Hand polydactyly, Scoliosis, Abnormal vertebral morphology ORPHA:261197
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me... OMIM:300863
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Pneumonia ORPHA:464370
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax, Eosinophilic infiltration of the esophagus OMIM:614816
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... OMIM:313400
Greenberg Dysplasia
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... ORPHA:1426
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... ORPHA:2475
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Air crescent sign, Neutropenia, Brain ... ORPHA:228119
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... OMIM:619220
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scolio... ORPHA:2180
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abdominal pain, Ab... ORPHA:180229
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... OMIM:184100
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Low-set, posteriorly rotated ears, Precocious puberty, Postnatal growth retardation, Feeding diff... ORPHA:254525
Cystic Echinococcosis
Abdominal symptom, Multiple pulmonary cysts, Abnormal pulmonary thoracic imaging finding, Pulmona... ORPHA:400
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... OMIM:619773
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Eczema, Pneumonia, Splenomegaly, Asthma, Decreased CD4:CD8 ratio OMIM:607271
Hydrolethalus
Low-set, posteriorly rotated ears, Cryptorchidism, Low-set ears, Abnormal fallopian tube morpholo... ORPHA:2189
Basilicata-Akhtar Syndrome
Epicanthus, Telecanthus, Abnormal pinna morphology, Precocious puberty, Feeding difficulties, Chr... OMIM:301032
Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Posteriorly rotated ears, Short stature, Blepharophimosis, Crypt... OMIM:300712
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:615139
Mosaic Trisomy 14
Narrow chest, Abnormal rib morphology, Camptodactyly of finger, Short neck ORPHA:1703
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Chromosome Xp11.23-P11.22 Duplication Syndrome
Medial flaring of the eyebrow, Posteriorly rotated ears, Precocious puberty, Synophrys, Overfolde... OMIM:300801
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... OMIM:223800
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent pneum... OMIM:300400
Bainbridge-Ropers Syndrome
Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Vomiting, Gastroe... OMIM:615485
Ollier Disease
Precocious puberty, Multiple enchondromatosis, Platyspondyly, Abnormal cartilage morphology ORPHA:296
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal pun... ORPHA:572333
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Posteriorly rotated ears, Short stature, Cryptorchidism, Bilater... ORPHA:163979
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Prominent superficial veins, Maternal diabetes, Insulin-resi... OMIM:604367
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Monocytop... OMIM:618986
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Pulmonary hypoplasia... OMIM:619708
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom... ORPHA:64739
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Miscarriage, Abnormality of the menstrual cycle, Decreased fertility ... ORPHA:137686
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... OMIM:250420
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... ORPHA:562
Kbg Syndrome
Syndactyly, Vertebral fusion, Short neck, Rib fusion, Vertebral arch anomaly, Cutaneous syndactyl... OMIM:148050
Smith-Mccort Dysplasia 1
Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat... OMIM:607326
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Donohue Syndrome
Precocious puberty, Postnatal growth retardation, Abdominal distention, Long penis, Hyperinsuline... OMIM:246200
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
19P13.12 Microdeletion Syndrome
Epicanthus, Hypospadias, Craniosynostosis, Precocious puberty, Cryptorchidism, Synophrys, Externa... ORPHA:254346
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Rib fusion, Ante... ORPHA:2990
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, Postnata... ORPHA:96184
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Atelectasis, L... OMIM:618278
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Abnormal rib morphology, ... ORPHA:3035
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Thin ribs, Bell-shaped thorax,... OMIM:166210
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Sho... ORPHA:582
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, Pulmonary hypoplasi... OMIM:613177
Activated Pi3K-Delta Syndrome
Pneumonia, Splenomegaly, Bronchiectasis, Arthritis, B lymphocytopenia, Recurrent otitis media, Re... ORPHA:397596
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... ORPHA:411703
Grant Syndrome
Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone... ORPHA:2097
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... OMIM:187600
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Prominent sup... ORPHA:528
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Short neck, P... ORPHA:3082
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form... ORPHA:2021
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Posteriorly rotated ears, Decreased res... OMIM:146510
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... OMIM:616576
Dystonia 28
Short stature, Precocious puberty, Feeding difficulties, Dysphagia, Hypothyroidism ORPHA:589618
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... OMIM:200610
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Premature pubarche, Feeding difficulties in infancy, Cryptorchidism, Gastroesophageal reflux, Gas... ORPHA:457205
Ciliary Dyskinesia, Primary, 37
Female infertility, Rhinorrhea, Goiter, Wheezing, Bronchiectasis, Chronic rhinitis, Hypothyroidis... OMIM:617577
Esophageal Atresia
Subglottic stenosis, Respiratory distress, Bronchitis, Maternal diabetes, Feeding difficulties in... ORPHA:1199
Smith-Magenis Syndrome
Short stature, Precocious puberty, Feeding difficulties in infancy, Synophrys, Abnormal form of t... ORPHA:819
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Ano... ORPHA:1302
Mucolipidosis Iii Gamma
Short neck, Flat capital femoral epiphysis, Hyperlordosis, Kyphosis, Pectus carinatum, Genu valgu... OMIM:252605
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Hip dyspl... OMIM:619698
Immunodeficiency 62
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Increa... OMIM:618459
Hypersulfaturia
Costochondral pain OMIM:620372
Seizures, Cortical Blindness, And Microcephaly Syndrome
Bronchiectasis OMIM:616632
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Air crescent sign, Colitis, Cough, Neutropenia,... ORPHA:73263
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
High Altitude Pulmonary Edema
Nausea and vomiting, Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Coug... ORPHA:330012
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Bruck Syndrome 1
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow flexion contract... OMIM:259450
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... ORPHA:2759
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... OMIM:253000
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Thrombocytopenia, Recurrent... ORPHA:333
Melnick-Needles Syndrome
Bowing of the long bones, Delayed cranial suture closure, Coxa valga, Short thorax, Abnormal rib ... ORPHA:2484
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Short stature, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Secondary ame... OMIM:268020
Achondrogenesis Type 1B
Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow chest ORPHA:93298
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Flared metaphysis, Vertebral c... OMIM:602557
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Bilateral ptosis, Feeding... ORPHA:254875
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Atelectasis, Dyspnea, Myocarditis, He... ORPHA:728
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Telecanthus, Precocious puberty, Cryptorchidism, Feeding difficulties, Upslanted palpebral fissur... OMIM:620073
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... ORPHA:50251
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Nausea and vomiting, Metrorrhagia, Anorexia, Precocious puberty, Abdomi... ORPHA:370348
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Short n... ORPHA:2616
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... OMIM:265120
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for... ORPHA:2876
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Carpenter Syndrome 1
Epicanthus, Telecanthus, Abnormal pinna morphology, External genital hypoplasia, Sagittal cranios... OMIM:201000
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal... OMIM:144750
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... ORPHA:70578
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Ciliary dyskinesia, Abnormal respiratory motile cilium morpho... OMIM:215520
Cartilage-Hair Hypoplasia
Low-set, posteriorly rotated ears, Epicanthus, Abnormally ossified vertebrae, Biconvex vertebral ... ORPHA:175
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Ground-glass opacification, Nonproductive coug... ORPHA:454836
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Abnormal endome... ORPHA:314478
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Neutropenia OMIM:193670
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Immunodeficiency 40
Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, Pulmonary infiltrates, ... OMIM:616433
Lujo Hemorrhagic Fever
Respiratory distress, Maculopapular exanthema, Skin rash, Crackles, Atelectasis, Fulminant hepati... ORPHA:319213
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Pulmonary infiltrates, Bronchiectasis, Cough OMIM:619468
Cardiocranial Syndrome, Pfeiffer Type
Low-set, posteriorly rotated ears, Contracture of the proximal interphalangeal joint of the 2nd f... ORPHA:2872
Ciliary Dyskinesia, Primary, 6
Recurrent respiratory infections, Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary... OMIM:610852
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... OMIM:206900
Central Precocious Puberty In Male
Abnormal response to gonadotropin-releasing hormone stimulation test, Pituitary microadenoma, Abn... ORPHA:649929
Hydrolethalus Syndrome 1
Hypospadias, Abnormal pinna morphology, Bifid uterus, Abnormal lung lobation, Stillbirth, Adrenal... OMIM:236680
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Bronchiectasis, T lymph... OMIM:618108
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Wormian bones, Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid proce... OMIM:300232
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T... OMIM:618982
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Slc35A2-Cdg
Short stature, Camptodactyly of finger, Craniosynostosis, Precocious puberty, Sensorineural heari... ORPHA:356961
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat... OMIM:608184
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... OMIM:613101
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Ovarian cyst, Menorrhagia, Bruising susceptibility, Joint... ORPHA:327
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Kyphosis, Abnormal rib morphology, Abnormal form o... ORPHA:2050
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Oxygen desaturation on exertio... ORPHA:60025
Meier-Gorlin Syndrome 6
Tracheobronchomalacia, Recurrent respiratory infections, Emphysema OMIM:616835
Pparg-Related Familial Partial Lipodystrophy
Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Insulin-resistant diabetes mellitus, Secondar... ORPHA:79083
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... ORPHA:486
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Vertebral fusion, Sacral di... OMIM:213980
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Emphysema ORPHA:357074
Diarrhea 12, With Microvillus Atrophy
Respiratory tract infection, Bronchiectasis OMIM:619445
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Optic Pathway Glioma
Precocious puberty, Growth delay, Vomiting, Nausea ORPHA:2086
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent upper respiratory tract infections, B lymphocytopenia, Pneumonia, Chronic bronchitis OMIM:614069
Cog1-Cdg
Irregularity of vertebral bodies, Kyphoscoliosis, Coxa valga, Short neck, Rib fusion, Posterior r... ORPHA:263508
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Preeclampsia
Helicobacter pylori infection, Abdominal pain, Polycystic ovaries, Type I diabetes mellitus, Intr... ORPHA:275555
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa... ORPHA:1227
Cowden Syndrome 6
Hyperthyroidism, Goiter, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, ... OMIM:615109
Cowden Syndrome 5
Hyperthyroidism, Goiter, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, ... OMIM:615108
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty, Macrotia, Upslanted palpebral fissure, Hearing impairment OMIM:619877
Atelosteogenesis Type I
Joint dislocation, Laryngeal stenosis, Telecanthus, Rhizomelia, Laryngotracheal stenosis, Coronal... ORPHA:1190
Melioidosis
Foot osteomyelitis, Brain abscess, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infe... ORPHA:31202
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Narrow joint spaces of the elbow, Hypospadias, Decreased response to growth hormone stimulation t... ORPHA:96182
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Ground-glass opacification, Respiratory tr... ORPHA:79128
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Keutel Syndrome
Sinusitis, Recurrent bronchitis, Pulmonary artery hypoplasia, Recurrent otitis media, Emphysema, ... OMIM:245150
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis... ORPHA:169160
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Bifid r... ORPHA:50
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Absent circulating B cells, Recu... OMIM:620282
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Chst3-Related Skeletal Dysplasia
Barrel-shaped chest, Short metacarpal, Enlarged joints, Kyphoscoliosis, Abnormality of the elbow,... ORPHA:263463
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Coxa valga, Bowing of the legs, Pectus excavatum, Coxa vara, Bell-shaped tho... OMIM:619131
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sa... OMIM:200600
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Scoliosis, Hearing impairment ORPHA:457260
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Choanal Atresia
Subglottic stenosis, Recurrent respiratory infections, Respiratory distress, Cyanosis, Craniosyno... ORPHA:137914
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Posteriorly rotated ears, Dyspnea, Respiratory failure, Low-set ears, Intra... ORPHA:1832
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus, Death in infancy OMIM:268650
9P13 Microdeletion Syndrome
Epicanthus, Short stature, External genital hypoplasia, Highly arched eyebrow, Precocious puberty... ORPHA:324313
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Short neck, Pectus excavatum, Pectus carinatum, Cervical ribs OMIM:609654
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertensio... ORPHA:258
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Beaded ribs, Short long bone... OMIM:616229
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Luscan-Lumish Syndrome
Short stature, Irregular menstruation, Advanced ossification of carpal bones, Polycystic ovaries,... OMIM:616831
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Recurrent pneumonia, Respiratory insufficiency, Pyelonephritis, Emphysema, Peripher... ORPHA:90349
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Thin ribs, Metaphyseal cu... ORPHA:163966
Immunodeficiency 102
Recurrent skin infections, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infecti... OMIM:301082
Sarcoidosis
Abnormal nasal mucosa morphology, Abnormal lung morphology, Increased T cell count, Uveitis, Tubu... ORPHA:797
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormality of the pulmonary artery ORPHA:363618
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint dislocation, Repeated pneumothoraces, Large joint dislocatio... ORPHA:536467
Cooper-Jabs Syndrome
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Abno... ORPHA:1488
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology ORPHA:195
Achondrogenesis Type 1A
Multiple rib fractures, Short neck, Short thorax, Short foot, Narrow chest, Short palm ORPHA:93299
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Pneumonia, Eczema, Pure... ORPHA:436159
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Cowden Syndrome 1
Hyperthyroidism, Hearing impairment, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovari... OMIM:158350
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Autosomal Recessive Robinow Syndrome
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno... ORPHA:1507
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Growth delay, Gastroesophageal ref... ORPHA:2414
Proteus-Like Syndrome
Thymus hyperplasia, Genu recurvatum, Abnormality of the parathyroid gland, Polycystic ovaries, Li... ORPHA:2969
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo... OMIM:619752
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... ORPHA:2347
Global Developmental Delay With Speech And Behavioral Abnormalities
Supernumerary nipple, Precocious puberty, Cryptorchidism, Downslanted palpebral fissures, Hearing... OMIM:619243
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Thin ribs, Femoral bowing, Biconcave vertebral bodies, Wormian bones, V... OMIM:617952
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:79085
Short-Rib Thoracic Dysplasia 12
Epicanthus, Posteriorly rotated ears, Abnormal pinna morphology, Atelectasis, Respiratory insuffi... OMIM:269860
Emphysema, Congenital Lobar
Respiratory distress, Bronchial cartilage hypoplasia OMIM:130710
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Pituitary Gigantism
Elevated circulating growth hormone concentration, Amenorrhea, Increased circulating insulin-like... ORPHA:99725
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Cough, Dysphagia, Abnormal pattern of res... ORPHA:77260
22Q11.2 Deletion Syndrome
Abnormal eyelid morphology, Feeding difficulties in infancy, Abnormal lung lobation, Hypoplasia o... ORPHA:567
Kleefstra Syndrome Due To A Point Mutation
Short stature, Uplifted earlobe, Precocious puberty, Gastroesophageal reflux, Abnormal shape of t... ORPHA:261652
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries ORPHA:79084
Immunodeficiency 77
Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess OMIM:619223
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Koolen-De Vries Syndrome Due To A Point Mutation
Joint dislocation, Decreased response to growth hormone stimulation test, Nasogastric tube feedin... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint dislocation, Decreased response to growth hormone stimulation test, Nasogastric tube feedin... ORPHA:363958
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Scoliosis, Dysphagia, Neonatal death, Pul... OMIM:619751
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Scoliosis, Hearing impairment OMIM:300958
Dysosteosclerosis
Clavicular sclerosis, Sclerotic scapulae, Increased intervertebral space, Delayed closure of the ... OMIM:224300
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Short stature, Hearing impairment, Increased circu... ORPHA:243
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Missing ribs, Rib fusion, Hemivertebrae, Supernumer... OMIM:304050
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Tapered finger, Rib fusion, Clinodactyly of the 5th finger ORPHA:544488
De Barsy Syndrome
Recurrent sinopulmonary infections, Emphysema ORPHA:2962
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:435660
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Bronchiectasis ORPHA:477814
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Sh... ORPHA:958
Digeorge Syndrome
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Gastroesophageal re... OMIM:188400
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Acrocyanosis, Death in childhood OMIM:302000
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty ORPHA:217377
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Kyphosis, Thin ribs, Tibial bowing, Slender long bone, Scoliosis, Wormian bo... OMIM:259420
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:435651
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Gastroesophageal reflux, Thickened helices, Prematurely aged appearance, Short stature, Hyperlord... OMIM:619950
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty, Scoliosis ORPHA:293181
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... ORPHA:1145
Congenital Disorder Of Glycosylation, Type Iy
Joint dislocation, Respiratory distress, Hypospadias, Feeding difficulties, Scoliosis, Macrotia OMIM:300934
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... OMIM:620296
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Bronchiectasis, Recurrent otit... OMIM:618523
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Abnormal lung lobation, Renal cyst, V... OMIM:270400
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Postnatal growth retardation, Feeding difficulties, Pulmonary hypoplasia, I... OMIM:616733
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Autoim... OMIM:614700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Chronic bronchitis, Reduced natural kill... OMIM:242860
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A... ORPHA:1120
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Thin ribs, Pectu... OMIM:612921
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Short stature, Dysmenorrhea, Postnatal growth retardation, Diarrhea, Irregular menstruation, Poly... ORPHA:79240
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Fe... OMIM:605809
Angelman Syndrome
Precocious puberty in females, Gastrostomy tube feeding in infancy, Dysphagia, Feeding difficulti... ORPHA:72
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... ORPHA:3258
Ellis Van Creveld Syndrome
Aplasia/Hypoplasia of the lungs, Emphysema, Acute leukemia ORPHA:289
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Sprengel anomaly, Cervical ribs, Thoracolumbar scoliosis OMIM:601389
Geleophysic Dysplasia 1
Short stature, Thickened helices, Camptodactyly of finger, Upslanted palpebral fissure, Tracheal ... OMIM:231050
Short Syndrome
Telecanthus, Prominent superficial veins, Sensorineural hearing impairment, Insulin-resistant dia... OMIM:269880
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Congenital hip dislocation, Sudden episodic apnea, Cyanosis, Ky... ORPHA:590
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Hand polydac... ORPHA:2167
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Congenital hip dislocation, Sudden episodic apnea, Cyanosis, Ky... ORPHA:98914
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Short stature, Dysmenorrhea, Diarrhea, Irregular menstruation, Polycystic ovaries, Growth delay, ... ORPHA:264580
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... OMIM:615952
Intellectual Developmental Disorder, Autosomal Recessive 76
Chronic constipation, Precocious puberty in females, Feeding difficulties OMIM:619931
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Restrictive ventilatory... OMIM:614399
Double Outlet Right Ventricle
Hypoparathyroidism, Cyanosis, Short stature, Abnormality of cartilage of external ear, Tachypnea,... ORPHA:3426
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Recurrent respiratory infections, Hypoparathyroidism, Thyroid hemiagenesis, H... ORPHA:209905
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Coxa valga, Short tubular bones of the hand, Vertebral arch anomaly, Abnormal diaphysis morpholog... ORPHA:85184
Neonatal Marfan Syndrome
Neonatal respiratory distress, Emphysema, Hypoxemia ORPHA:284979
Cortisone Reductase Deficiency 2
Premature pubarche OMIM:614662
Familial Partial Lipodystrophy, Dunnigan Type
Diabetes mellitus, Dysmenorrhea, Secondary amenorrhea, Polycystic ovaries ORPHA:2348
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Short stature, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsuline... OMIM:262190
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hal... ORPHA:280
Bent Bone Dysplasia Syndrome 2
Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, Coronal cleft vertebrae, Plat... OMIM:620076
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Bowe... OMIM:616482
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Premature thelarche, Sclerotic cranial sutures, Abnormal form of the vertebral bodie... ORPHA:371428
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Ptosis, Respiratory distress, Posteriorly rotated ears, Apne... OMIM:614669
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... ORPHA:93317
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Broad ribs, Abno... ORPHA:583
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Diaphyseal sclerosis OMIM:122860
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Ovoid vertebral b... ORPHA:85167
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Craniosynostosis, Precocious puberty, Nasogastric tube feeding in infancy, Ab... ORPHA:369837
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... ORPHA:911
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... ORPHA:662
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... OMIM:614736
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis OMIM:252900
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Biconvex vertebral bodies, Death in infan... OMIM:184260
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Enlarged ovaries, Short stature, Precocious puberty, Hypothy... ORPHA:769
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Precocious Puberty, Central, 1
Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elev... OMIM:176400
Meier-Gorlin Syndrome 1
Respiratory distress, Genu recurvatum, Feeding difficulties in infancy, Hemivertebrae, Gastroesop... OMIM:224690
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Anterior rib cupping,... OMIM:211350
Immunodeficiency, Common Variable, 2
Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent... OMIM:240500
Maffucci Syndrome
Neoplasm of the adrenal cortex, Short stature, Neoplasm of the parathyroid gland, Pituitary adeno... ORPHA:163634
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Mucopolysaccharidosis, Type Ivb
Ulnar deviation of the wrist, Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubul... OMIM:253010
Osteoporosis-Pseudoglioma Syndrome
Wormian bones, Short stature, Isosexual precocious puberty ORPHA:2788
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor... OMIM:619652
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy, Apnea, Feeding difficulties OMIM:610992
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... OMIM:618282
Kabuki Syndrome 1
Joint dislocation, Congenital hip dislocation, Premature thelarche, Feeding difficulties in infan... OMIM:147920
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent upper respiratory tract infecti... OMIM:614868
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Primary Effusion Lymphoma
Dyspnea, Abdominal distention, Pleural effusion, Abdominal pain ORPHA:48686
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen... OMIM:142900
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Thin ribs, S... OMIM:312150
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Short stature, Epistaxis, Diarrhea, Irregular menstruation, Thyroiditis, Gout, Polycystic ovaries... ORPHA:79259
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Feeding difficulties, S... ORPHA:137935
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Elevated circulating... ORPHA:226313
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm OMIM:614437
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... OMIM:619636
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Fe... ORPHA:95716
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Recurrent respiratory infections, Ptosis, Respiratory failure requiring ass... OMIM:211530
Kabuki Syndrome
Hypoplasia of penis, Hemivertebrae, Abnormal form of the vertebral bodies, Protruding ear, Conduc... ORPHA:2322
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi... OMIM:243700
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... OMIM:201750
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, R... OMIM:613658
Diaphanospondylodysostosis
Delayed vertebral ossification, Respiratory distress, Epicanthus, Absent in utero ossification of... OMIM:608022
Congenital Fibrinogen Deficiency
Cyanosis, Hemorrhagic ovarian cyst, Abdominal pain, Micropenis, Bruising susceptibility, Decrease... ORPHA:335
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Epicanthus, Telecanthus, Delayed cranial ... OMIM:619383
Immunodeficiency 43
Recurrent respiratory infections, Lung abscess, Bronchiectasis, B lymphocytopenia, Organizing pne... OMIM:241600
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Feeding difficulties OMIM:616341
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Feeding difficulties in infancy, Protruding ear, Gastroesophageal reflux, Lo... ORPHA:534
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Ptosis, Orthopnea, Bowel incontinence, Hyperlordosis, Respiratory tract inf... ORPHA:365
Chand Syndrome
Atelectasis ORPHA:1401
Cole-Carpenter Syndrome 2
Wide cranial sutures, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Lambdoidal craniosyno... OMIM:616294
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Epicanthus, Short stature, Polycystic ovaries, Gonadal dysgene... ORPHA:1770
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... OMIM:250220
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Abnormal rib morphology, Pectus carinatum, Abnormal hip bone morphology, Clinodact... ORPHA:3068
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Abnormal bronchus morphology, Neonatal asphyxia, Abnormal lung mo... ORPHA:141127
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae OMIM:252920
Fabry Disease
Dyspnea, Chronic pulmonary obstruction, Respiratory insufficiency, Arthritis, Emphysema, Anemia ORPHA:324
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Short stature, Respiratory insufficiency due to muscle weakness, Poor suck,... OMIM:300580
Campomelia, Cumming Type
Bowing of the long bones, Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib... ORPHA:1318
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Abnormal lung lobation, Gonadotropin deficiency, Hemivertebrae... ORPHA:672
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis... ORPHA:183675
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Epicanthus, Cyanosis, Posteriorly rotated... ORPHA:3309
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Mowat-Wilson Syndrome
Bifid scrotum, Uplifted earlobe, Gastrointestinal dysmotility, Vomiting, Conductive hearing impai... ORPHA:2152
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Hypoplastic ilia, Lateral clavicle hook, ... OMIM:617895
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Thin ribs, S... OMIM:253290
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the ... ORPHA:1834
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Feeding difficulties in infancy, Respiratory insufficiency ORPHA:238329
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Diabetes mellitus, Dysmenorrhea, Decreased adiponectin level... ORPHA:280365
Trehalase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:103909
Woolly Hair Nevus
Precocious puberty, Enlarged vestibular aqueduct ORPHA:79414
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Tibial bowi... OMIM:610915
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ... ORPHA:249
Tay-Sachs Disease
Gastrostomy tube feeding in infancy, Precocious puberty, Ankle clonus, Aspiration pneumonia, Dysp... ORPHA:845
Opitz Gbbb Syndrome
Bifid scrotum, Feeding difficulties in infancy, Vertebral segmentation defect, Recurrent aspirati... ORPHA:2745
Myhre Syndrome
Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Hearin... ORPHA:2588
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea... ORPHA:276
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Brachydactyly ORPHA:2145
Mogs-Cdg
Respiratory distress, Absent brainstem auditory responses, Thoracic scoliosis, Hypoventilation, A... ORPHA:79330
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Bronchomalacia, Short stature, Abnormal p... OMIM:617180
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty OMIM:619356
Cleidocranial Dysplasia
Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Tapered finger, Abnormal thumb morph... ORPHA:1452
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Metaphyseal widening, Abnormal thorax morphology, Abnormal form of the vertebral bodies, Thin rib... ORPHA:73230
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... ORPHA:2970
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Ptosis, Telecanthus, Prominent metopic ridge, Apnea, Hypoventilation, Feedi... ORPHA:314655
Rubinstein-Taybi Syndrome 1
Respiratory distress, Premature thelarche, Bilateral cryptorchidism, Feeding difficulties in infa... OMIM:180849
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... ORPHA:2004
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Alexander Disease
Nausea and vomiting, Diabetes mellitus, Bowel incontinence, Hyperlordosis, Precocious puberty, Ky... ORPHA:58
Pyknoachondrogenesis
Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wing morphology, Poorly ossif... ORPHA:3003
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl... OMIM:613091
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... ORPHA:1517
Neuralgic Amyotrophy
Acrocyanosis, Short stature, Respiratory insufficiency ORPHA:2901
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Cyanosis, Restrictive ventilatory def... ORPHA:98913
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Telecanthus, Abnormal pinna morphology, Jaundice, Renal cortical cysts, Vom... OMIM:231680
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia... OMIM:618495
Greenberg Dysplasia
Beaded ribs, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcaneus, Narrow c... OMIM:215140
Mucopolysaccharidosis, Type Iiic
Beaking of vertebral bodies, Thickened ribs, Ovoid thoracolumbar vertebrae, Kyphoscoliosis OMIM:252930
Volvulus Of Midgut
Telecanthus, Abdominal distention, Neonatal intestinal obstruction, Constipation, Long palpebral ... OMIM:193250
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Abnormal sternum mo... ORPHA:2911
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Frontometaphyseal Dysplasia 1
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... OMIM:305620
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary cap... ORPHA:199241
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Pneumonia, Enlarged polycystic ovaries, Abnormal circulating leptin concentrati... ORPHA:2298
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... ORPHA:93324
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Uplifted earlobe, Webbed penis, Micropenis, Abnormality of the pulmonary artery, M... ORPHA:261537
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Acute hepatic failure, Entropion, Nausea ... ORPHA:537
Autosomal Dominant Cutis Laxa
Bronchiectasis, Pyelonephritis, Bronchiolitis, Emphysema, Peripheral pulmonary artery stenosis ORPHA:90348
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Faundes-Banka Syndrome
Epicanthus, Premature thelarche, Feeding difficulties in infancy, Cryptorchidism, Conductive hear... OMIM:619376
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Bifid femu... ORPHA:2769
Omenn Syndrome
Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Erythroderma, Abnormal lymphocy... ORPHA:39041
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... OMIM:615207
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Hypospadias, Precocious puberty, Postnatal growth retardation, Disproportio... OMIM:210720
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Bowing of the long bones, Short femur, Thoracic scoliosis, Tibial bowing,... OMIM:613848
Infantile Systemic Hyalinosis
Severe short stature, Telangiectasia of the skin, Camptodactyly of finger, Chronic diarrhea, Poly... ORPHA:2176
Opsismodysplasia
Short metacarpal, Anterior rib cupping, Short neck, Hypoplasia of the odontoid process, Squared i... OMIM:258480
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Intestinal obstruction, Nasal polyposis, ... ORPHA:2869
Craniometadiaphyseal Dysplasia
Broad long bones, Coxa valga, Cubitus valgus, Flared metaphysis, Genu valgum, Scoliosis, Wormian ... OMIM:269300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Cryptorchidism, Synophrys, Hip dislocation, Aplasia/Hypoplasia of the gallbla... ORPHA:96092
Congenital Heart Block
Cyanosis, Crackles, Feeding difficulties in infancy, Intrauterine growth retardation, Pleural eff... ORPHA:60041
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy, Sensorineural hearing impairment, Feeding difficulties, G... OMIM:616974
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Epicanthus, Small scrotum, Hypospadias, Abnormal pinna morphology, Rhizomel... OMIM:607143
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Pustule, Dyspnea, Myocarditis, Hepatitis, Erythroderma, Thyroiditis, Pul... ORPHA:139402
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Kyphoscoliosis, Bifid distal phalanx of the thumb, Missing ... ORPHA:97360
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop... OMIM:613179
Moebius Syndrome
Respiratory distress, Epicanthus, Hypogonadotropic hypogonadism, Abnormal pinna morphology, Feedi... OMIM:157900
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Short stature, Breathing dysregulation, Precocious puberty, Cryptorchidis... ORPHA:438213
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Hyperparathyroidism, Wide cranial sutures, Feeding difficulties, Ovarian cy... OMIM:618188
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Timothy Syndrome
Pulmonary arterial hypertension, Pneumonia, Bronchitis OMIM:601005
Radio-Renal Syndrome
Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormality of the elbow, Abnormal... ORPHA:3015
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the costochondra... OMIM:600081
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... ORPHA:251623
Bronchial Neuroendocrine Tumor
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... ORPHA:97287
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Pediatric-Onset Graves Disease
Nausea and vomiting, Craniosynostosis, Abnormal eyelid morphology, Puberty and gonadal disorders,... ORPHA:525731
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... OMIM:218600
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Ankle flexion contracture, Respiratory insufficiency due t... ORPHA:1143
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... ORPHA:1359
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro... OMIM:616100
Hereditary Bullous Dystrophy, Macular Type
Short stature, Pneumonia, External genital hypoplasia, Cryptorchidism, Growth delay, Acrocyanosis... ORPHA:1867
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Fractured radius, Decreased fibular diameter, Beaded ribs, S... OMIM:616897
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Recurrent respiratory infections, Severe short stature, Abnormal nasolacrimal... ORPHA:3047
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, Fused cervical... OMIM:157800
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ... ORPHA:36234
Tarp Syndrome
Low-set, posteriorly rotated ears, Cyanosis, Apnea, Cryptorchidism, Prominent antihelix, Abnormal... ORPHA:2886
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... ORPHA:39812
Prolactinoma
Vomiting, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed... ORPHA:2965
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology ORPHA:2772
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Uplifted earlobe, Webbed penis, Micropenis, Abnormality of the pulmonary artery, M... ORPHA:261552
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Scapular winging, Supernumerary ribs, Six lumbar vertebrae OMIM:619122
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Vomiting, Male hypogonadism, Hype... ORPHA:91347
Hemochromatosis, Type 1
Arthropathy, Diabetes mellitus, Hypogonadotropic hypogonadism, Abdominal pain, Telangiectasia, Az... OMIM:235200
Achondrogenesis, Type Ib
Abdominal distention, Respiratory insufficiency, Stillbirth, Absent or minimally ossified vertebr... OMIM:600972
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Thyroid nodule, Goiter OMIM:180295
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurrent upper respiratory tract i... OMIM:602450
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Feeding difficulties, Downslanted palpebral fissures, Intermittent hyperventi... ORPHA:163681
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpa... OMIM:194190
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Small scrotum, Cryptorchidism, Feeding difficulties, Death in childhood, In... OMIM:615597
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Small hand, Thin ribs... OMIM:244460
Williams Syndrome
Hypoplasia of penis, Abnormal form of the vertebral bodies, Protruding ear, Vertebral segmentatio... ORPHA:904
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress, Plant... OMIM:620011
X-Linked Dominant Chondrodysplasia Punctata
Abnormally ossified vertebrae, Sparse eyelashes, Abnormal pinna morphology, Anomalous tracheal ca... ORPHA:35173
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Hypogonadotropic hypogonadism, Short stature, Bilateral cryptorchidism, Sensorineural h... ORPHA:2326
Lig4 Syndrome
Recurrent respiratory infections, Epicanthus, Cryptorchidism, Asthma, Telangiectasia, Upslanted p... OMIM:606593
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... ORPHA:747
Maternal Uniparental Disomy Of Chromosome 2
Neonatal respiratory distress, Premature ovarian insufficiency, Hypospadias, Decreased response t... ORPHA:96179
Marfan Syndrome
Pulmonary artery dilatation, Emphysema, Arthralgia/arthritis, Spontaneous pneumothorax ORPHA:558
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypoplasia of ... OMIM:603554
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Hypoplastic iliac wing, Abnormal vertebra... ORPHA:93315
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia OMIM:618253
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum OMIM:258850
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Epicanthus, Posteriorly rotated ears, Hyperlordosis, Precocious puberty, Synophrys, Limited elbow... OMIM:301066
Isolated Atp Synthase Deficiency
Respiratory distress, Short stature, Sensorineural hearing impairment, Hypogonadism, Hypothyroidi... ORPHA:254913
Lead Poisoning
Decreased female libido, Miscarriage, Anorexia, Abnormality of the menstrual cycle, Abdominal pai... ORPHA:330015
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Bowing of the legs, Short neck, Triangular shaped distal phalanges of the hand, Abnormal calcific... OMIM:271665
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoi... OMIM:250250
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Shwachman-Diamond Syndrome 1
Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Metaphyseal chondrodysplasia... OMIM:260400
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Bea... ORPHA:89936
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Growth delay, Dysphagia, ... OMIM:613561
Zttk Syndrome
Craniosynostosis, Kyphosis, Rib fusion, Hemivertebrae, Small hand, Short foot, Cervical ribs, Sco... OMIM:617140
Agnathia-Otocephaly Complex
Respiratory distress, Conductive hearing impairment, Pulmonary hypoplasia, Low-set ears, Tracheom... OMIM:202650
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Kyphoscoliosis OMIM:619099
Renpenning Syndrome
Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodactyly of the 5th fin... ORPHA:3242
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... ORPHA:91359
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Intrauterine growth retardation, Feeding difficulties ORPHA:26792
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's... OMIM:619705
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Respiratory insufficiency due to muscle w... ORPHA:2905
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Irregular ver... OMIM:271640
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Feeding difficult... ORPHA:95715
Gm1-Gangliosidosis, Type I
Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebr... OMIM:230500
Thyroid Lymphoma
Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Stridor, Dysphagia, Hyp... ORPHA:97285
Paternal Uniparental Disomy Of Chromosome 6
Neonatal respiratory distress, Neonatal insulin-dependent diabetes mellitus, Precocious puberty, ... ORPHA:96191
Meckel Syndrome 14
Cyanosis, Abdominal distention, Pneumothorax, Cardiorespiratory arrest, Pulmonary hypoplasia, Pol... OMIM:619879
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic lymphatic leu... OMIM:616005
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Decreased nasal nitric oxide, Bronchiectasis, Productive cough OMIM:615434
Hypoadrenocorticism, Familial
Cyanosis, Apnea, Adrenal hypoplasia, Feeding difficulties in infancy, Adrenal insufficiency, Vomi... OMIM:240200
Lethal Congenital Contracture Syndrome 1
Neonatal death, Widening of cervical spinal canal, Pulmonary hypoplasia OMIM:253310
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Osteoarthritis, Bronchiectasis OMIM:620080
Myopathy And Diabetes Mellitus
Type I diabetes mellitus, Sensorineural hearing impairment, Respiratory distress ORPHA:2596
Immunodeficiency 58
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Eczema, Allergic rhiniti... OMIM:618131
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Epicanthus, Short stature, Highly arched eyebrow, Sparse eyebrow, C... OMIM:614527
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Intestinal obstruction, Sinusitis, Recurrent intrapulmonary hemorrhage, Cuti... ORPHA:183
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Nasal polyposis, Abdominal pain, Bloody diarrhea, Ovarian cyst, Intesti... OMIM:175200
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Poor appetite, Abdominal pain, Sma... ORPHA:298
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Hypoplas... ORPHA:3144
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Split... OMIM:200980
Nipah Virus Disease
Respiratory distress, Nausea and vomiting, Anorexia, Recurrent pharyngitis, Cough ORPHA:99825
Sponastrime Dysplasia
Subglottic stenosis, Epicanthus, Lumbar hyperlordosis, Hypospadias, Rhizomelia, Kyphoscoliosis, P... ORPHA:93357
Marfan Syndrome
Pulmonary artery dilatation, Emphysema, Pneumothorax, Premature osteoarthritis OMIM:154700
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia ORPHA:204
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Nasogastric tube feed... ORPHA:268261
Mgat2-Cdg
Low-set, posteriorly rotated ears, Respiratory distress, Posteriorly rotated ears, Gastroparesis,... ORPHA:79329
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Histiocytoid Cardiomyopathy
Cyanosis, Tachypnea, Renal cyst, Polycystic ovaries, Vomiting, Cough, Pulmonary edema ORPHA:137675
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Cryptorchidism, Abdominal distention, Diarrhea, Vomiting, Decreased liver funct... OMIM:608104
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Broad ribs, Joint swelling, Flaring of rib cage, Fused cervical vertebrae OMIM:612852
Dysostosis Multiplex, Ain-Naz Type
Severe short stature, Abdominal distention, Hip dislocation, Hemivertebrae, Flat acetabular roof,... OMIM:619345
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Increased circulating androstenedi... OMIM:202010
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... ORPHA:2519
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Kyphoscoliosis OMIM:617977
Riddle Syndrome
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... ORPHA:420741
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Feeding difficulties, Scol... OMIM:615042
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Narrow pelvis bon... ORPHA:96061
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Absent eyebrow, Clitoral hypertrophy, Epicanthus, Telecanthus, Dyspnea, Fee... ORPHA:2707
Satoyoshi Syndrome
Abnormality of the knee, Short stature, Hyperlordosis, Nephrogenic diabetes insipidus, Abnormal j... ORPHA:3130
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abnormal rib morphology, Femoral bowin... ORPHA:83
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Split hand, Abnormal rib morphology, Popliteal pterygium, Scol... ORPHA:1300
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Abnormality of the knee, Hypoventilation, Neonatal respiratory distress, Li... ORPHA:98915
Congenital Pancreatic Cyst
Abdominal distention, Vomiting, Anorexia, Abdominal pain ORPHA:313906
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Craniosynostosis, Ankle flexion contracture, Feeding difficulties in infancy, Gastrostomy tube fe... ORPHA:284417
Medullary Thyroid Carcinoma
Diarrhea, Primary hyperparathyroidism, Dysphagia, Neoplasm of the lung, Pheochromocytoma, Elevate... ORPHA:1332
Alagille Syndrome
Hypoplasia of the ulna, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral... ORPHA:52
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Goiter, Elevated circulating thyr... OMIM:274300
Fraser-Like Syndrome
Subglottic stenosis, Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd f... OMIM:229230
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Posteriorly rotated ears, Abnormality of ... OMIM:300968
Q Fever
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditi... ORPHA:781
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Dyspnea, Abdominal distention, Diarrhea, Intermittent jaundice, Neoplasm of the lung, N... ORPHA:100085
Stt3B-Cdg
Respiratory distress, Small scrotum, Cryptorchidism, Feeding difficulties, Intrauterine growth re... ORPHA:370924
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Severe B lymphocytopenia, ... OMIM:102700
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... ORPHA:3378
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, Streak ovary, ... ORPHA:2232
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Growth delay, Short stature, Kyphoscoliosis OMIM:163200
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... OMIM:600002
Athyreosis
Short stature, Abdominal distention, Feeding difficulties, Growth delay, Constipation ORPHA:95713
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Slender long bone, Brachydactyly, Craniosynostosis, Thin ribs OMIM:618265
Myotonic Dystrophy 1
Respiratory distress, Feeding difficulties in infancy, Hypogonadism, Dysphagia, Cholelithiasis, T... OMIM:160900
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... ORPHA:169105
Sclerosteosis 1
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation of finger, Abno... OMIM:269500
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Hemivertebrae, Vertebral wedging, Abnor... OMIM:109400
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Ne... ORPHA:37042
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea ORPHA:103907
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abno... ORPHA:79124
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Pneumonia, Splenomegaly, Chronic otitis media, Thrombocytopenia ORPHA:169090
Atelosteogenesis Type Ii
Laryngeal stenosis, Epicanthus, Telecanthus, Rhizomelia, Cervical kyphosis, Thoracolumbar kyphosc... ORPHA:56304
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Kn... OMIM:600920
Kniest Dysplasia
Respiratory distress, Hip contracture, Enlarged joints, Rhizomelia, Conductive hearing impairment... OMIM:156550
Xylt1-Cdg
Joint dislocation, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clav... ORPHA:370930
Ovarian Fibroma
Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Gonadal calcification, Pleura... ORPHA:314473
Arboleda-Tham Syndrome
Respiratory distress, Bilateral cryptorchidism, Anteverted ears, Conjunctivitis, Gastroesophageal... OMIM:616268
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Kyphosis, Rib fusion, Spinal canal stenosis, Short foo... ORPHA:1606
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Atypical or p... ORPHA:83471
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Papillary thyroid carcinoma, Nodular goiter, Chronic lung disease, ... ORPHA:319487
Müllerian Aplasia And Hyperandrogenism
Short stature, Synophrys, Primary amenorrhea, Protruding ear, Hypoplasia of the uterus, Increased... ORPHA:247768
Small Bowel Atresia
Short stature, Abdominal distention, Feeding difficulties, Vomiting, Intrauterine growth retardation ORPHA:1201
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Delayed cranial suture closure, Decreased circulatin... ORPHA:90674
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Precocious puberty, Sensorineural hearing impairment, Asthma, Growth... OMIM:619269
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Cheilitis, Bronchiectasis, Recurrent aphthous stomatitis, R... OMIM:615468
Wrinkly Skin Syndrome
Recurrent sinopulmonary infections, Emphysema ORPHA:2834
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Thoracic scoliosis, Gastrostomy tube feeding in infancy, ... OMIM:620278
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Stillbirth, Abnormality of the vertebral column, Abnormal vertebr... OMIM:276950
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Diarrhea, Vomiting, Feeding difficulties OMIM:612075
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Pect... OMIM:225500
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Conjunctiviti... OMIM:601495
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Telecanthus, Short stature, Flat acetabular roof, Low-set ears, Protuberant... OMIM:617102
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Feeding d... OMIM:618426
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Short stature, Precocious puberty, Kyphosis, Abnormal lung morphology... ORPHA:97685
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Microtia, Pulmonary hypoplasia, Low-set ears, Dysphagia, Neonatal de... OMIM:608013
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... OMIM:158310
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Feeding difficulties, Intrauterine growth retardation, Macrotia, Aplasia/Hy... ORPHA:261304
Alpha-Mannosidosis, Adult Form
Pancytopenia, Pneumonia, Hepatosplenomegaly ORPHA:309288
Acquired Methemoglobinemia
Respiratory distress, Cyanosis, Abdominal pain, Dyspnea, Hypoxemia, Vomiting ORPHA:464453
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Perrault Syndrome 4
Premature ovarian insufficiency, Cubitus valgus, Increased circulating gonadotropin level, Second... OMIM:615300
Adiposis Dolorosa
Abdominal distention, Constipation OMIM:103200
Microsporidiosis
Sinusitis, Pneumonia, Bronchitis, Anorexia, Abdominal pain, Abnormality of the parathyroid gland,... ORPHA:2552
Ascher Syndrome
Abnormal eyelid morphology, Goiter, Upper eyelid edema, Blepharophimosis, Hypothyroidism, Ptosis ORPHA:1253
Tuberous Sclerosis 2
Hearing impairment, Precocious puberty, Retinal hamartoma, Renal cyst, Adenoma sebaceum, Hypothyr... OMIM:613254
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the costochondra... OMIM:241530
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Posteriorly rotated ears, Cryptorchidism, Respiratory insufficiency, Pulmon... OMIM:224410
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Recurrent pneumonia, Epididymitis, Bronchiectasis, Wheezing, ... OMIM:300755
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overlapping fingers, Short neck, Femoral bowing, Short long bone, Narrow ches... OMIM:617022
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... ORPHA:90301
Achondroplasia
Respiratory distress, Death in infancy, Lumbar hyperlordosis, Rhizomelia, Upper airway obstructio... OMIM:100800
Diffuse Cutaneous Systemic Sclerosis
Nausea and vomiting, Dyspareunia, Telangiectasia of the skin, Dyspnea, Xerostomia, Pulmonary infi... ORPHA:220393
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Unilateral ptosis, Cyanosis, Cryptorchidism, Protruding ear, Macrotia, Downslanted palpebral fiss... ORPHA:3304
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... ORPHA:331235
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... OMIM:263520
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Laryngeal stenosis, Short stature, Kyphoscoliosis, Hip subluxation, Kyphosis, Radial head subluxa... ORPHA:93360
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Elbow disloca... ORPHA:90652
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Lumbar hyperlordosis, Abdominal pain, Dyspnea, Scoliosis, Cough ORPHA:86812
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, External genital hypoplasia, Scoliosis, N... ORPHA:329178
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Nasogastric tube feedin... ORPHA:254864
Lassa Fever
Nausea and vomiting, Menometrorrhagia, Miscarriage, Abdominal pain, Dyspnea, Jaundice, Diarrhea, ... ORPHA:99824
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism, Pheochromocytoma, Scoliosis ORPHA:2874
Hurler Syndrome
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Abnormality of the elbow, Abno... ORPHA:93473
Ear-Patella-Short Stature Syndrome
Respiratory distress, Hypoplasia of penis, Epispadias, Clitoral hypoplasia, Anotia, Microtia, thi... ORPHA:2554
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas... ORPHA:443811
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor, Abnormal tracheal morphology OMIM:150280
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Protrusio acetabuli, Femoral r... OMIM:610682
Folinic Acid-Responsive Seizures
Respiratory distress, Abdominal distention, Sensorineural hearing impairment, Apnea ORPHA:79097
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Jaundice, Gastrointestinal dysm... ORPHA:90051
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedg... OMIM:253200
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Epicanthus OMIM:614741
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Spatulate ribs, Short neck, Metatarsus adductus, Th... OMIM:253220
Tuberous Sclerosis 1
Precocious puberty, Renal cyst, Adenoma sebaceum, Hypothyroidism, Pulmonary lymphangiomyomatosis OMIM:191100
Thyroid Hemiagenesis
Thyroid agenesis, Abdominal distention, Jaundice, Growth delay, Constipation ORPHA:95719
Malaria
Respiratory distress, Nausea and vomiting ORPHA:673
Kagami-Ogata Syndrome
Long clavicles, Kyphoscoliosis, Coxa valga, Long fingers, Thin ribs, Bell-shaped thorax OMIM:608149
Mercury Poisoning
Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Interstitial pneumonitis, Respi... ORPHA:330021
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Papillary thyroid carcinoma, Chronic lung disease, Goiter ORPHA:97290
Gray Platelet Syndrome
Bruising susceptibility, Epistaxis, Abnormality of the menstrual cycle ORPHA:721
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Abnormality of the menstrual cycle, Respiratory ... ORPHA:90308
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ... OMIM:264700
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Hypospadias, Rhizomelia, Precocious puberty, Long eyelashes, Recurrent patellar dislo... OMIM:615877
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Decreased serum leptin, Decreased fertility in females, Labi... OMIM:269700
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Cyanosis, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormo... OMIM:250790
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Maternal diabetes, Tachypnea, Anomalous pulmonary venous return, Hypoxemia ORPHA:860
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Diabetes mellitus, Decreased serum leptin, Decreased fertili... OMIM:608594
Alström Syndrome
Respiratory distress, Thoracic scoliosis, Decreased response to growth hormone stimulation test, ... ORPHA:64
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Neuropathic arthropathy, Recurrent infections due to aspiration, Feeding difficulties in infancy,... OMIM:223900
Atelosteogenesis, Type I
Laryngeal stenosis, Rhizomelia, Thoracic platyspondyly, Cryptorchidism, Elbow dislocation, Knee d... OMIM:108720
Camptodactyly Syndrome, Guadalajara Type 3
Short neck, Abnormal rib morphology, Small hand, Short foot, Spina bifida occulta, Thickened cort... ORPHA:488434
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Tapered fing... ORPHA:2215
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Abdominal pain, Feeding difficulties, Respiratory failure, Progressive hear... OMIM:620166
Auriculocondylar Syndrome
Low-set, posteriorly rotated ears, Respiratory distress, Abnormal pinna morphology, Cleft helix, ... ORPHA:137888
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs ORPHA:456328
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Hypogonadotropic hypogonadism, Anterior p... ORPHA:177907
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Hemothorax, Telangiectasia, Hypoxemia, Gastrointestinal infarctions... ORPHA:2038
Bifid Nose With Or Without Anorectal And Renal Anomalies
Posteriorly rotated ears, Precocious puberty, Rectovaginal fistula, Low-set ears, Overfolded heli... OMIM:608980
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Feeding difficulties, Low-set ears, Dysphagia, Intrauterine growth retardation ORPHA:89844
Restrictive Dermopathy 2
Respiratory distress, Cyanosis, Feeding difficulties, Gastroesophageal reflux, Intrauterine growt... OMIM:619793
Meier-Gorlin Syndrome 3
Small scrotum, Patellar hypoplasia, Gastroesophageal reflux, Micropenis, Genu varum, Bronchomalac... OMIM:613803
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Occipital Horn Syndrome
Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Coxa valga, Broad clav... OMIM:304150
Brucellosis
Liver abscess, Bronchitis, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis... ORPHA:1304
Pendred Syndrome
Congenital sensorineural hearing impairment, Cochlear malformation, Thyroid carcinoma, Compensate... OMIM:274600
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1647
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Epicanthus, Mixed hearing impairment, Posteriorly rotated ears, Short statu... OMIM:606164
Thyroid Dyshormonogenesis 1
Growth delay, Constipation, Hypothyroidism, Goiter OMIM:274400
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin... ORPHA:293987
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Gastrointestinal dysmotility... OMIM:613662
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Cryptococcosis
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Feeding difficulties in infancy, Tachypnea, Maternal diabetes ORPHA:45452
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Premature thelarche, Oral-pharyngeal dysphagia, Sensorineural hearing impairment, Hypothyroidism,... OMIM:616878
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, C... OMIM:208500
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Nausea and vomiting, Testicular neoplasm, Abdominal pain, Abdominal dis... ORPHA:83469
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Peritoneal Cystic Mesothelioma
Dyspareunia, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Menorrhagia, Consti... ORPHA:168816
Adnp Syndrome
Respiratory distress, Short stature, Oral-pharyngeal dysphagia, Cryptorchidism, Bilateral ptosis,... ORPHA:404448
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Hemivertebrae, Abnormal vertebral morphology ORPHA:77298
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplasia/Hypoplasi... OMIM:276820
Pitt-Hopkins Syndrome
Supernumerary nipple, Postnatal growth retardation, Cryptorchidism, Feeding difficulties, Upslant... ORPHA:2896
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ankle flexion contracture, Telangiectasia, Knee flexion contracture, Downsl... OMIM:608799
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Epicanthus, Telecanthus, Short stature, Feeding difficulties in infancy, Up... OMIM:610536
Atypical Werner Syndrome
Fasting hyperinsulinemia, Premature graying of hair, Abnormality of the pulmonary artery, Prematu... ORPHA:79474
Chromosome 8Q22.1 Duplication Syndrome
Laryngeal stenosis, Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contr... OMIM:151200
Floating-Harbor Syndrome
Enlarged joints, Hypospadias, Short stature, Kyphoscoliosis, Precocious puberty, Cryptorchidism, ... ORPHA:2044
Orofaciodigital Syndrome I
Epicanthus, Telecanthus, Short stature, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplas... OMIM:311200
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Epicanthus, Telecanthus, Recurrent bronch... OMIM:617303
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Respiratory distress, Craniosynostosis, Cryptorchidism, Aplasia/Hypoplasia of the ... ORPHA:1555
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Sensorineural hearing impairment, Irregular menstr... OMIM:617565
Campomelic Dysplasia
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Patellar hypoplasia, Sex reve... OMIM:114290
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Hand monodact... OMIM:609945
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Long eyebrows, Macrotia, Prominent antihelix, Growth delay, Joint contracture of the 5th finger, ... OMIM:614407
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Neurofibromatosis Type 1
Short stature, Abnormal eyelid morphology, Precocious puberty, Cryptorchidism, Abnormality of the... ORPHA:636
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Pulmonary embolism, Feeding difficulties in infancy, Colitis, Vomiting, Cou... ORPHA:3260
Stuve-Wiedemann Syndrome 1
Enlarged joints, Short neck, Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia... OMIM:601559
Japanese Encephalitis
Respiratory distress, Irregular respiration, Genu recurvatum, Anorexia, Abdominal pain, Diarrhea,... ORPHA:79139
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Multip... ORPHA:93311
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Gastroesophageal reflux, Apnea ORPHA:1949
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Feeding difficulties in infancy, Elevated circulating thyroid-... ORPHA:90673
Thyroid Dyshormonogenesis 5
Growth delay, Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Growth delay, Hypothyroidism, Goiter OMIM:274800
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties,... ORPHA:927
Listeriosis
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ... ORPHA:533
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs OMIM:614833
Arterial Tortuosity Syndrome
Respiratory distress, Prematurely aged appearance, Telangiectasia of the skin, Craniosynostosis, ... ORPHA:3342
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Intercostal retractions, Abnormal lacrimal sac morphology, Dac... ORPHA:141083
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Prostate cancer, Ovarian neoplasm OMIM:616534
Acute Promyelocytic Leukemia
Purpura, Metrorrhagia, Epistaxis, Anorexia, Productive cough, Diffuse alveolar hemorrhage, Abdomi... ORPHA:520
Gonadoblastoma
Abdominal pain, Female external genitalia in individual with 46,XY karyotype, Abdominal distentio... ORPHA:206484
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure... OMIM:614299
Odontochondrodysplasia
Respiratory distress, Death in infancy, Short stature, Platyspondyly, Scoliosis ORPHA:166272
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Epicanthus, Gastrostomy tube feeding in infancy, Biliary hyperplasia, Crypt... ORPHA:83617
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Skin rash, Pneumonia, Bronc... ORPHA:125
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Neutropenia, Restrictiv... OMIM:607944
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... ORPHA:454831
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus... OMIM:607872
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Constipation, Vomiting, Enterocolitis OMIM:142623
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Absent thumb, Sagittal craniosynostosis, Ri... ORPHA:500150
Gm1 Gangliosidosis Type 1
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Flared iliac wing, Short long bon... ORPHA:79255
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Shprintzen-Goldberg Craniosynostosis Syndrome
Arachnodactyly, Genu recurvatum, Craniosynostosis, Metatarsus adductus, Lateral clavicle hook, Me... OMIM:182212
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Thoracic scoliosis, Scapular winging, Tapered toe, Shoulder flexion contracture,... OMIM:620369
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Dyspnea, Thrombocytopenia, Leukopenia, Interstitial pneumonitis, Increased mean ... OMIM:127550
Proteus Syndrome
Pulmonary embolism, Neoplasm of the thymus, Abnormal lung lobation, Renal cyst, Abnormal form of ... ORPHA:744
Succinic Acidemia
Respiratory distress OMIM:600335
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Short neck, Lateral clavicle hook, Preaxial polydactyly, Hypoplastic pubic... OMIM:617925
Chromosome 6Q24-Q25 Deletion Syndrome
Medial flaring of the eyebrow, Respiratory distress, Sparse eyelashes, Hooded eyelid, Cupped ear,... OMIM:612863
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Bifid scrotum, Laryngeal stenosis, Low-set, posteriorly rotated ears, Small scrotum, Bilateral pt... ORPHA:324540
Tolchin-Le Caignec Syndrome
Hooded eyelid, Precocious puberty, Sensorineural hearing impairment, Nasolacrimal duct obstructio... OMIM:618971
Fraser Syndrome 1
Subglottic stenosis, Laryngeal stenosis, Malformed lacrimal duct, Abnormal thymus morphology, Con... OMIM:219000
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Abdominal distention OMIM:174050
Ethylene Glycol Poisoning
Cyanosis, Gastritis, Nausea, Tachypnea, Episodic respiratory distress, Vomiting, Abnormal pattern... ORPHA:31826
Schwartz-Jampel Syndrome
Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Abnormally ossified vertebrae... ORPHA:800
Cystic Fibrosis
Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced vital capacity, R... OMIM:219700
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal pulmonary thoracic imaging finding, Orthopnea, Cyanosi... ORPHA:980
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Poor appetite,... ORPHA:95513
Myhre Syndrome
Vertebral fusion, Short stature, Cryptorchidism, Laryngotracheal stenosis, Respiratory insufficie... OMIM:139210
Al Amyloidosis
Gastrointestinal hemorrhage, Gastroparesis, Nonproductive cough, Dyspnea, Abdominal distention, X... ORPHA:85443
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
H Syndrome
Abnormal eyebrow morphology, Diabetes mellitus, Short stature, Recurrent pharyngitis, Bronchiecta... ORPHA:168569
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Craniofaciofrontodigital Syndrome
Respiratory distress, Gastrointestinal hemorrhage, Epicanthus, Prominent superficial veins, Short... ORPHA:363705
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia ORPHA:240103
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Arachnodactyly, Pectus excavatum, Thin ribs, Thin metatarsal cortices, Slender long bone, Lumbar ... ORPHA:2463
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Fetal Iodine Deficiency Disorder
Congenital hypothyroidism, Congenital goiter, Hearing impairment OMIM:228355
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis, Broad phalanges of the hand, Broad ribs, ... OMIM:277600
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, Cryptorchidism, Pancreatic lymphangiectasis, Abdominal distention, ... ORPHA:1655
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thoracic scoliosis, Gastroesophageal reflux, Severe sensorineural hearing impairment, Conductive ... OMIM:620186
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Vomiting OMIM:237310
Kaposiform Lymphangiomatosis
Metrorrhagia, Epistaxis, Pancreatic cysts, Dyspnea, Abnormal lung morphology, Abnormal form of th... ORPHA:464329
Cerebrofacioarticular Syndrome
Epicanthus, Hypospadias, Short stature, Blepharophimosis, Feeding difficulties in infancy, Conduc... ORPHA:314679
Myasthenia Gravis
Ptosis, Hyperthyroidism, Dyspnea, Primary adrenal insufficiency, Abnormal thymus morphology, Rheu... ORPHA:589
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Sensorineural hearing impairment, Feeding difficulties, Scoliosis, Gastrost... ORPHA:544503
Gracile Bone Dysplasia
Slender long bone, Brachydactyly, Flared metaphysis, Thin ribs OMIM:602361
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Subglottic stenosis, Decreased response to growth hormone stimulation test, Synophrys, Gastroesop... ORPHA:444077
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Palpebral edema, Angioedema, Erythema, Upper airway obstruction, Urticaria ORPHA:100057
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Death in infancy, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Abdomina... OMIM:235255
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, All... OMIM:615816
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Lethal Congenital Contracture Syndrome 5
Thin ribs OMIM:615368
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lumbar hyperlordosis, Limited elbow movement, Craniosynostosis, Kyphosis, Laryngotracheal stenosi... ORPHA:508533
Acrodysostosis 1 With Or Without Hormone Resistance
Epicanthus, Mild postnatal growth retardation, Short stature, Cryptorchidism, Elevated circulatin... OMIM:101800
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Cough, Morbilliform rash, Abscess, Pulmonary inf... ORPHA:228123
Microcephalic Primordial Dwarfism, Dauber Type
Subglottic stenosis, Short stature, Abnormal carpal morphology, Madelung deformity, Primary ameno... ORPHA:319675
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation ORPHA:168829
Ulbright-Hodes Syndrome
Abnormal penis morphology, Respiratory distress, Abnormal external genitalia, Enlarged labia mino... ORPHA:3404
Shigellosis
Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Uveitis, Ulcerative... ORPHA:810
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Feeding difficulties in infancy, Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Feeding di... ORPHA:1329
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones, Preaxial polydactyly, Flat ace... OMIM:616300
Blepharophimosis, Ptosis, And Epicanthus Inversus
Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Increase... OMIM:110100
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Cryptorchidism, Encopresis, Feeding difficulties, Gastroesophageal reflux, Co... OMIM:616682
Schinzel-Giedion Syndrome
Respiratory distress, Renal cyst, Shallow orbits, Micropenis, Streak ovary, Hypospadias, Abnormal... ORPHA:798
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent aspiration pneumonia ORPHA:79243
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Recurrent intrapulmonary hemorrhage, Sinusitis, Epistaxis, Abno... ORPHA:906
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Sensorineural hearing impairment, Enlarged vestibula... OMIM:600791
Trisomy 1Q
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Short thorax,... ORPHA:261344
Hsd10 Disease, Infantile Type
Gastrointestinal dysmotility, Cyanosis, Dysphagia, Hearing impairment ORPHA:391428
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pneumonia, Episodic tachypnea, Jaundice, Tachypnea, Feeding difficulties, V... ORPHA:26793
8Q24.3 Microdeletion Syndrome
Respiratory distress, Ectopic posterior pituitary, Thoracic scoliosis, Congenital hip dislocation... ORPHA:508488
Lethal Recessive Chondrodysplasia
Respiratory distress, Flared elbow metaphyses ORPHA:1423
Platyspondylic Dysplasia, Torrance Type
Abdominal distention, Abnormal carpal morphology, Platyspondyly, Pulmonary hypoplasia, Low-set ea... ORPHA:85166
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Progeroid facial appearance, Polycystic ov... ORPHA:79086
Breath-Holding Spells
Cyanosis OMIM:607578
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Lym... OMIM:614162
Viss Syndrome
Chronic gastritis, Eczema, Dyspnea, Asthma, Pneumothorax, Hypereosinophilia, Atopic dermatitis, P... OMIM:619472
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Hep... ORPHA:1855
Monosomy 9Q22.3
Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of the vertebral col... ORPHA:77301
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Bangstad Syndrome
Severe short stature, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter OMIM:210740
Episodic Ataxia Type 1
Respiratory distress, Kyphoscoliosis, Nausea, Scoliosis ORPHA:37612
Gaucher Disease, Type Ii
Apnea, Thrombocytopenia, Splenomegaly, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumo... OMIM:230900
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Feeding difficulties in infancy, Abdominal distention, Elevated circulating thy... OMIM:218700
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal death, Posterior rib fusion, Butterfly vertebrae OMIM:265380
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Respiratory distress, Hypospadias, Posteriorly rotated ears, Craniosynostosis, Fee... OMIM:123790
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Respirato... ORPHA:2968
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Hypospadias, Apnea, Feeding difficulties in infancy, Sensorineural he... OMIM:252010
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Osteoarthritis, Shallow orbits, Conductive hearing impairmen... ORPHA:740
Laryngeal Abductor Paralysis
Stridor, Cyanosis, Dysphagia OMIM:150260
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Hydrocele testis, Microtia, Scoliosis, Ovarian serous cystadenoma ORPHA:276280
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... ORPHA:308552
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Nausea and vomiting, Anorexia, Abdominal pain, Feeding difficulties ORPHA:79312
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Horizontal ribs OMIM:614857
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal sti... OMIM:117650
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Erythema, Peritoni... ORPHA:343
Severe Congenital Nemaline Myopathy
Abnormal thorax morphology, Adducted thumb, Thin ribs ORPHA:171430
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst OMIM:617100
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Death in infancy, Hypoventilation, Abdominal distention, Knee contracture, Feeding difficulties, ... OMIM:620275
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Bronchitis, Recurrent skin infections, Gastritis, Decreased ... OMIM:619381
Goodpasture Syndrome
Cyanosis, Nodular pattern on pulmonary HRCT, Ground-glass opacification, Crackles, Increased DLCO... OMIM:233450
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Sinusitis, Skin rash, Eczema, Pneum... ORPHA:811
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Laryngeal stenosis, Multicystic kidney dysplasia, Pneumonia, Dyspnea, Pneum... ORPHA:79404
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Paraganglioma of head and neck, Cervical neoplasm, Thyroid C... ORPHA:653
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Prominent superficial veins, Labial pseudohypertrophy, Insul... OMIM:151660
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation ORPHA:160148
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Ovoid thor... OMIM:252940
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Absent eyelashes, Cryptorchidism, Tracheoesophageal fistula, ... ORPHA:861
Cocaine Intoxication
Respiratory distress, Diffuse alveolar hemorrhage, Hyperventilation, Abdominal pain, Wheezing, Pn... ORPHA:90068
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Poor appetite,... ORPHA:91355
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Abdominal pain, Abdominal distention, Diarrhea, Respiratory insufficie... ORPHA:100924
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Pectus excavatum, Coat hanger sign of ribs, Prominent sternum, Camptod... ORPHA:254528
Branchiootorenal Syndrome 1
Mixed hearing impairment, Congenital hip dislocation, Lacrimal duct stenosis, Dilatated internal ... OMIM:113650
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Growth delay, Nausea and vomiting ORPHA:289916
Hypoglossia With Situs Inversus
Respiratory distress, Feeding difficulties in infancy, Malnutrition, Upper airway obstruction, Lo... OMIM:612776
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Glutaric Aciduria Iii
Diarrhea, Hyperthyroidism, Vomiting, Goiter OMIM:231690
Visceral Myopathy, Familial, With External Ophthalmoplegia
Gastroparesis, Abdominal pain, Abdominal distention, Malnutrition, Ptosis OMIM:277320
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Rhizomelia, Recurrent pneumonia, Feeding difficulties, Growth delay, Tube f... OMIM:616271
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Short stature, Follicular thyroid carcinoma, He... ORPHA:201
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Hyperextensibility of the knee, Thin ribs, Tibial bowing, Slender long bone, Short... OMIM:601812
Combined Oxidative Phosphorylation Deficiency 53
Death in infancy, Short stature, Abdominal distention, Arthritis, Death in childhood, Septic arth... OMIM:619423
Blepharochalasis And Double Lip
Blepharochalasis, Goiter OMIM:109900
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Xerostomia, Gastrointestinal inflammat... ORPHA:95455
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Growth delay, Abdominal distention, Short stature, Delayed puberty ORPHA:369
Cystic Fibrosis
Recurrent respiratory infections, Nasal polyposis, Sinusitis, Reduced forced expiratory volume in... ORPHA:586
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... ORPHA:99106
Kagami-Ogata Syndrome
Kyphoscoliosis, Short neck, Coxa valga, Bell-shaped thorax, Coat hanger sign of ribs, Thoracic hy... ORPHA:254519
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... ORPHA:555874
Hydatidiform Mole
Nausea and vomiting, Menometrorrhagia, Miscarriage, Hyperthyroidism, Enlarged uterus ORPHA:99927
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Qazi-Markouizos Syndrome
Cryptorchidism, Delayed ossification of carpal bones, Abdominal distention, Chronic constipation ORPHA:3010
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Epicanthus, Short stature, Hydrometrocolpos, Aplasia of the epiglottis, Low... OMIM:617088
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Skin rash, Pneumonia ORPHA:247691
Holocarboxylase Synthetase Deficiency
Respiratory distress, Nausea and vomiting, Anorexia, Tachypnea, Keratoconjunctivitis, Growth delay ORPHA:79242
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Feeding difficulties, Inspiratory stridor, Irregular resp... OMIM:604377
Dermatomyositis
Recurrent respiratory infections, Telangiectasia of the skin, Abnormal eyelid morphology, Feeding... ORPHA:221
Carnitine Deficiency, Systemic Primary
Respiratory distress, Diarrhea, Vomiting OMIM:212140
Fanconi Anemia, Complementation Group F
Leukopenia, Thrombocytopenia, Pneumonia, Anemia OMIM:603467
Thyrocerebrorenal Syndrome
Sensorineural hearing impairment, Euthyroid goiter ORPHA:3327
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... OMIM:615237
Osteogenesis Imperfecta
Cervical kyphosis, Abnormal tibia morphology, Osteoarthritis, Abnormal femur morphology, Abnormal... ORPHA:666
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Pneumonia, Respiratory tract infection, Dyspnea, Myocarditis, Le... ORPHA:544482
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Celiac Disease, Susceptibility To, 1
Short stature, Stomatitis, Abdominal pain, Postnatal growth retardation, Abdominal distention, Di... OMIM:212750
Familial Dysautonomia
Recurrent respiratory infections, Abnormal pleura morphology, Feeding difficulties in infancy, Gr... ORPHA:1764
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Recurrent respiratory infections, Hypospadias, Apnea, Sensorineural hearing... ORPHA:17
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Epicanthus, Telecanthus, Lumbar hyperlord... ORPHA:505248
Chiari Malformation Type Ii
Cyanosis, Feeding difficulties, Inspiratory stridor, Dysphagia OMIM:207950
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Increased intervertebral space, Broad ischia, Diaphyseal dysplasia, Platys... OMIM:619727
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... ORPHA:99104
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Goiter OMIM:274240
X-Linked Acrogigantism
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Elevated circulating growt... ORPHA:300373
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Tuberous Sclerosis Complex
Respiratory distress, Retinal astrocytic hamartoma, Respiratory tract infection, Retinal hamartom... ORPHA:805
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormal eyelid morphology, Epispadias, Abnormal fallopian tube morphology,... ORPHA:2556
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Nausea and vomiting, Epicanthus, Apnea, Abnormality of the menstrual cycle, El... ORPHA:285
Hennekam-Beemer Syndrome
Mastocytosis, Pneumonia, Respiratory insufficiency ORPHA:2135
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the middle phalanges o... OMIM:151050
Microlissencephaly-Micromelia Syndrome
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Palp... ORPHA:50810
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Glandular hypospadias, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Mirage Syndrome
Thrombocytopenia, Leukopenia, Aspiration pneumonia, Hypoplastic spleen, Lymphopenia, Anemia OMIM:617053
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Cyanosis, Exertional dyspnea OMIM:250800
Multiple Endocrine Neoplasia, Type Iib
Hyperlordosis, Kyphosis, Diarrhea, Pheochromocytoma, Constipation, Scoliosis, Elevated circulatin... OMIM:162300
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Epicanthus, Telecanthus, External ear malformation, Feeding difficulties in... ORPHA:438216
Craniorachischisis
Bifid sternum ORPHA:63260
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration... ORPHA:1018
Aicardi-Goutieres Syndrome 1
Diabetes insipidus, Short stature, Feeding difficulties in infancy, Erythema, Prolonged neonatal ... OMIM:225750
Dravet Syndrome
Limited knee extension, Cyanotic episode ORPHA:33069
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Hemivertebrae, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Small proximal ti... ORPHA:96334
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Nasogastric tube feeding in... ORPHA:206436
Osteoglophonic Dysplasia
Respiratory distress, Telecanthus, Severe short stature, Hypospadias, Camptodactyly of finger, Cr... OMIM:166250
Autosomal Dominant Progressive External Ophthalmoplegia
Hyperthyroidism, Diabetes mellitus, Gastroparesis, Hearing impairment, Goiter, Respiratory insuff... ORPHA:254892
Encephalopathy, Ethylmalonic
Death in infancy, Chronic diarrhea, Feeding difficulties, Acrocyanosis, Petechiae OMIM:602473
Autosomal Dominant Centronuclear Myopathy
Thin ribs ORPHA:169189
Malignant Peritoneal Mesothelioma
Abdominal pain, Dyspnea, Abdominal distention, Peritonitis, Ileus ORPHA:168811
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Feeding difficulties in infancy, Abdominal distention, Vomiting, D... OMIM:300048
Lymphatic Malformation 7
Respiratory distress, Abdominal distention, Chylothorax, Pleural effusion, Pulmonary edema OMIM:617300
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Kypho... OMIM:183900
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Epicanthus, Posteriorly rotated ears, Sensorineural hearing impairment, Kne... OMIM:618733
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Reye syndrome-l... ORPHA:348
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Feeding difficulties, Pleural effusion, Pulmonary edema OMIM:261740
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... OMIM:269150
Wolman Disease
Nausea and vomiting, Abdominal distention, Malnutrition, Growth delay, Steatorrhea, Hepatic failure ORPHA:75233
Familial Multinodular Goiter
Hyperthyroidism, Pleuropulmonary blastoma, Multinodular goiter, Ovarian neoplasm, Thyroid carcino... ORPHA:276399
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Arthritis, Limitation of knee mobility, I... OMIM:203500
Carey-Fineman-Ziter Syndrome
Laryngeal stenosis, Epicanthus, Short stature, Glandular hypospadias, Growth delay, Scoliosis, Do... ORPHA:1358
Thyroid Hypoplasia
Short stature, Abdominal distention, Jaundice, Growth delay, Constipation, Hypothyroidism, Thyroi... ORPHA:95720
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Abdominal pain, Hematemesis, Dyspnea, Diarrhea, Melen... ORPHA:340
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Pediatric Systemic Lupus Erythematosus
Abdominal pain, Dyspnea, Diarrhea, Abdominal distention, Arthritis, Vomiting, Pleural effusion ORPHA:93552
Nestor-Guillermo Progeria Syndrome
Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Thin ri... OMIM:614008
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Ptosis, Respiratory insufficiency due to muscle weakness, Sensorineural hea... OMIM:220110
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastroint... ORPHA:2131
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi... OMIM:615512
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... ORPHA:185
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Short metatarsal, Spinal canal stenosis, Elbow flexion co... OMIM:608328
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Congenital hip dislocation, Short stature, Adrenal hypoplasia, Erythema, Mild intrauterine growth... OMIM:308050
Vater/Vacterl Association
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Preaxi... OMIM:192350
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Respiratory distress, Hypoplasia of penis, Narrow internal aud... ORPHA:990
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Knee flexion contracture, Feeding dif... OMIM:617239
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Recurrent pharyng... ORPHA:293978
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Partial anomalous pulmonary venous return, Renal cyst, Low-set ears OMIM:617478
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Pseudobulbar paralysis, Infanti... ORPHA:268943
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion, Hepatic failure ORPHA:292
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea, Hepatic failure OMIM:261680
Congenital Laryngeal Web
Respiratory distress, Stridor, Short stature ORPHA:2374
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Granuloma, Infectious encephalitis, I... ORPHA:68
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Menometrorrhagia, Epistaxis, Anorexia, Abdominal pain, Dyspnea, Long... ORPHA:79430
Leopard Syndrome 1
Epicanthus, Hypospadias, Posteriorly rotated ears, Limited elbow movement, Kyphoscoliosis, Delaye... OMIM:151100
Ramos-Arroyo Syndrome
Respiratory distress, Severe short stature, Feeding difficulties in infancy, Dacryocystitis, Xero... ORPHA:1051
Cushing Syndrome Due To Ectopic Acth Secretion
Plethora, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm ... ORPHA:99889
Thyroid Ectopia
Short stature, Abnormality of the thyroid gland, Abdominal distention, Jaundice, Growth delay, Co... ORPHA:95712
Truncus Arteriosus
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... ORPHA:3384
Primary Dystonia, Dyt4 Type
Blepharospasm, Respiratory distress, Kyphoscoliosis, Dysphagia ORPHA:98805
Waardenburg Syndrome, Type 1
Sprengel anomaly, Supernumerary ribs, Supernumerary vertebrae OMIM:193500
Mucolipidosis Type Ii
Recurrent respiratory infections, Epicanthus, Prominent metopic ridge, Hip contracture, Respirato... ORPHA:576
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Chilblains, Pneumonia, Thrombocyto... OMIM:615846
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia ORPHA:90790
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Hearing impairment OMIM:619580
Tetanus
Respiratory distress, Bowel incontinence, Abdominal pain, Tachypnea, Dysphagia ORPHA:3299
Wilson Disease
Acute hepatic failure, Abnormality of the menstrual cycle, Jaundice, Arthritis, Joint swelling, B... ORPHA:905
Double Outlet Left Ventricle
Cryptorchidism, Pulmonary artery stenosis, Tachypnea, Cyanosis ORPHA:3427
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea OMIM:606824
Dextrocardia
Congenital hip dislocation, Abnormal rib morphology ORPHA:1666
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Abdominal pain, Orchitis, Gastrointestina... ORPHA:48435
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Low-set, posteriorly rotated ears, Respiratory distress, Telecanthus, Congenital hip dislocation,... ORPHA:480880
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of finger, Short stature, Camptodactyly of finger, Progeroid facial appearanc... OMIM:256040
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Enterocolitis, Growth... ORPHA:95427
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Tracheoesophageal fistula, Pulmonary arterial hypertens... ORPHA:210122
Chops Syndrome
Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, Chronic lu... OMIM:616368
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Recurrent respiratory infections, Hypoperistalsis OMIM:619365
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia, Acrocyanosis ORPHA:2400
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocyto... ORPHA:391487
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Kyphosis, Posterior rib gap, Bell-shaped thorax ORPHA:1393
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Growth delay, Hypospadias OMIM:619272
Osteopathia Striata With Cranial Sclerosis
Arachnodactyly, Delayed closure of the anterior fontanelle, Pectus excavatum, Thoracolumbar kypho... OMIM:300373
Cholera
Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... ORPHA:99050
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency, Hepatic failure ORPHA:159
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphoscoliosi... OMIM:225400
Gm1 Gangliosidosis
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Aspiration pneumonia, Infecti... ORPHA:354
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Constricting Bands, Congenital
Abnormal rib cage morphology, Syndactyly, Hand polydactyly, Scoliosis OMIM:217100
Orofaciodigital Syndrome Type 14
Low-set, posteriorly rotated ears, Telecanthus, Bilateral cryptorchidism, Epispadias, Aplasia of ... ORPHA:434179
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Sensorineural hearing impairment, Cyanosis, Dysphagia, Genu valgum ORPHA:488627
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Simpson-Golabi-Behmel Syndrome
Finger syndactyly, Vertebral fusion, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... ORPHA:373
Hereditary Angioedema Type 1
Respiratory distress, Abdominal pain, Dyspnea, Diarrhea, Urticaria, Dermatographic urticaria, Vom... ORPHA:100050
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Feeding difficulties, Stridor, Gastroesophageal reflux, Poor suck OMIM:615595
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Nausea and vomiting, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Doors Syndrome
Respiratory distress, Epicanthus, Adrenal hyperplasia, Sagittal craniosynostosis, Bilateral ptosi... ORPHA:79500
Apert Syndrome
Anomalous tracheal cartilage, Limited elbow movement, Sagittal craniosynostosis, Cryptorchidism, ... OMIM:101200
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections, Oral-pharyngeal dysphagia, Scoliosis, Low... OMIM:615273
Fucosidosis
Kyphosis, Vascular skin abnormality, Anterior beaking of lumbar vertebrae, Acrocyanosis, Hypothyr... ORPHA:349
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea, Pulmonary edema OMIM:115197
Buerger Disease
Acrocyanosis ORPHA:36258
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Sparse eye... OMIM:614748
Meckel Syndrome, Type 8
Ambiguous genitalia, Abdominal distention, Low-set ears, Polycystic kidney dysplasia OMIM:613885
Hallermann-Streiff Syndrome
Hyperlordosis, Pectus excavatum, Metaphyseal widening, Thin ribs, Slender long bone, Abnormal rib... OMIM:234100
Holoprosencephaly-Postaxial Polydactyly Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorc... ORPHA:2166
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Telecanthus, Enlargement of the ankles, Short stature, Nasogastric tube fee... ORPHA:99646
Leprechaunism
Reduced subcutaneous adipose tissue, Enlarged ovaries, Overgrowth of external genitalia, Postnata... ORPHA:508
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Respiratory insufficiency, Decreased liver function, Hepatic failure, Gener... ORPHA:367
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Congenital hip dislocation, Block vertebrae, Cyano... OMIM:306955
Monosomy 9P
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Postaxial hand polydact... ORPHA:261112
Inhalational Anthrax
Respiratory distress, Dyspnea, Vomiting, Abnormal sweat gland morphology ORPHA:247257
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Camptodactyly of finger, Short stature, Feeding difficulties in infa... ORPHA:3206
Gitelman Syndrome
Neoplasm of the pancreas, Respiratory distress, Nausea and vomiting, Maternal diabetes, Abdominal... ORPHA:358
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Delayed closure of the ... OMIM:303600
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Abnormality of thyroid physiology, A... ORPHA:1830
Sotos Syndrome
Chronic otitis media, Small cell lung carcinoma, Acute lymphoblastic leukemia, Pulmonary bleb ORPHA:821
Nephrotic Syndrome, Type 1
Neonatal respiratory distress, Abdominal distention, Growth delay, Gastroesophageal reflux, Hypot... OMIM:256300
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Acute hepatic failure, Short stature, Reye syndrome-like episodes, Jaundice... OMIM:256810
Ethylmalonic Encephalopathy
Diarrhea, Acrocyanosis, Petechiae ORPHA:51188
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention, Ptosis ORPHA:1876
Orofaciodigital Syndrome Xiv
Telecanthus, Posteriorly rotated ears, Epispadias, Cryptorchidism, Aplasia of the epiglottis, Ups... OMIM:615948
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Craniosynostosis, Short neck, Pectus excavatum, Genu valgum, Pectus carinatum, Co... ORPHA:309282
Early Infantile Epileptic Encephalopathy
Precocious puberty, Micropenis ORPHA:1934
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Psoriasiform dermatitis, Abnormal T cell subset distribution, Arth... ORPHA:221139
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... OMIM:609152
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Diarrhea, Activating thyroid-stimulating hor... ORPHA:424
Diamond-Blackfan Anemia 10
Respiratory distress, Posteriorly rotated ears, Short stature, Growth delay, Microtia, Atresia of... OMIM:613309
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Vomiting OMIM:251000
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Epicanthus, Posteriorly rotated ears, Conductive hearing impairment, Synophrys, Sensorineural hea... ORPHA:466943
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Short stature, Central hypothyroidism, ... OMIM:301035
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Diarrhea, Activating thyroid-stimulating hor... ORPHA:99819
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Robin Sequence With Cleft Mandible And Limb Anomalies
Short stature, 4-5 metacarpal synostosis, Hip dislocation, Aplasia of the epiglottis, Protruding ... OMIM:268305
Letterer-Siwe Disease
Stomatitis, Abdominal distention, Dyspnea, Pulmonary infiltrates OMIM:246400
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Absent eyebrow, Absent nipple, Sparse eyelashes, Aplasia/Hypoplastia of the... OMIM:305100
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring, Short stature, Protruding ear OMIM:268320
Pmm2-Cdg
Respiratory distress, Epicanthus, Hypogonadotropic hypogonadism, Abnormal pinna morphology, Eleva... ORPHA:79318
Plague
Respiratory distress, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Abnormality of the elbow, ... ORPHA:707
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insuffici... ORPHA:2255
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Fetal Akinesia Deformation Sequence 1
Hip contracture, Camptodactyly of finger, Rocker bottom foot, Short neck, Thin ribs, Slender long... OMIM:208150
Oromandibular Dystonia
Blepharospasm, Respiratory distress, Dysphagia ORPHA:93958
Classical Ehlers-Danlos Syndrome
Osteoarthritis, Shoulder dislocation, Vomiting, Gastroesophageal reflux, Ecchymosis, Acrocyanosis... ORPHA:287
Liver Failure, Infantile, Transient
Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, V... OMIM:613070
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Abdominal distention, Bloody diarrhea, Hypoplasia of the thymus, Congenital pulmo... ORPHA:436252
Pfeiffer Syndrome
Bronchomalacia, Tracheal cartilaginous sleeve, Humeroradial synostosis, Shallow orbits, Coronal c... OMIM:101600
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Subglottic stenosis, Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Congenital hypothyroidism,... OMIM:271510
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Bilateral ptosis, Sensorineural... OMIM:164310
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Apnea, Decreased response to growth hormone stimulation test, Synophrys, Multiple joint dislocati... OMIM:619503
Generalized Arterial Calcification Of Infancy
Respiratory distress, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular ... ORPHA:51608
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea ORPHA:103910
Pfeiffer Syndrome Type 2
Tracheomalacia, Atresia of the external auditory canal, Low-set ears, Respiratory distress ORPHA:93259
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Avascular necrosis of the capital femoral epiphysis, Abnormal rib m... ORPHA:581
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Eosinophilia, Lymphadenitis, Abnormal lung mo... ORPHA:449395
Fryns Syndrome
Rocker bottom foot, Proximal placement of thumb, Short neck, Short thumb, Thin ribs, Stillbirth, ... OMIM:229850
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Vomiting, Cough, Pancreatic hypoplasia, Hypospadias, Abno... OMIM:619991
Aicardi-Goutières Syndrome
Diabetes mellitus, Cutis marmorata, Short stature, Arthritis, Eyelid coloboma, Prolonged neonatal... ORPHA:51
Shwachman-Diamond Syndrome 2
Subglottic stenosis, Death in infancy, Short stature, Exocrine pancreatic insufficiency, Diarrhea... OMIM:617941
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... OMIM:616749
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Jaundice, Feeding difficulties, Growth delay, Low-set e... ORPHA:79282
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Thrombocytopenia, Aspiration pneumonia, Seborrheic dermatitis OMIM:301072
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Aortic Arch Interruption
Respiratory distress, Cyanosis, Feeding difficulties in infancy, Tachypnea, Aortopulmonary window... ORPHA:2299
Niemann-Pick Disease Type C
Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepato... ORPHA:646
Congenital Tufting Enteropathy
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Arthritis, Vomiting, Steatorrhea ORPHA:92050
Leptospirosis
Respiratory distress, Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Diarrhea, Pulmonar... ORPHA:509
Necrotizing Enterocolitis
Apnea, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting ORPHA:391673
Pfeiffer Syndrome Type 3
Tracheomalacia, Respiratory distress, Low-set ears, Hearing impairment ORPHA:93260
Trisomy 18
Camptodactyly of finger, Postaxial hand polydactyly, Abnormal rib morphology, Deviation of finger... ORPHA:3380
Eosinophilic Fasciitis
Arthritis, Acrocyanosis ORPHA:3165
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Abnormal hip bone morphology... ORPHA:2907
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Bronchomalacia, Abdominal distention, Sensori... OMIM:619351
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Growth delay, Vomiting, Steatorrhea ORPHA:71
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting ORPHA:35710
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Congenital hip dislocation OMIM:271225
Cardiac Valvular Dysplasia 2
Central cyanosis, Pulmonary artery dilatation OMIM:620067
Malakoplakia
Abdominal pain, Orchitis, Abnormality of the menstrual cycle, Diarrhea, Prostate neoplasm, Cough ORPHA:556
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Knee osteoarthritis, Scoliosis, Intervertebral disc degeneration OMIM:619656
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Apnea, Tachypnea, Recurrent aspiration pneumonia, Chronic lung ... ORPHA:397715
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Abdominal distention, Wh... ORPHA:97214
Alagille Syndrome 1
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... OMIM:118450
Hereditary Fructose Intolerance
Abdominal pain, Abdominal distention, Diarrhea, Growth delay, Constipation, Vomiting, Chronic hep... ORPHA:469
Inflammatory Pseudotumor Of The Liver
Abdominal distention, Vomiting, Nausea, Abdominal pain ORPHA:90003
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... OMIM:610655
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:99125
Criss-Cross Heart
Cyanosis, Respiratory insufficiency, Feeding difficulties ORPHA:1461
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal epiph... ORPHA:667
Acquired Purpura Fulminans
Hepatic failure, Acrocyanosis, Macular purpura ORPHA:49566
Limb-Mammary Syndrome
Absent lacrimal punctum, Absent nipple, Chronic irritative conjunctivitis, Sparse eyebrow, Lacrim... ORPHA:69085
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Abdominal distention, Jaundice, Intrauterine growth retar... OMIM:617156
Neuroleptic Malignant Syndrome
Pulmonary embolism, Leukocytosis, Aspiration pneumonia, Thrombocytosis, Thrombocytopenia ORPHA:94093
Cranioectodermal Dysplasia 2
Syndactyly, Craniosynostosis, Short neck, Pectus excavatum, Postaxial hand polydactyly, Polydacty... OMIM:613610
Cornelia De Lange Syndrome 1
Thrombocytopenia, Pneumonia, Otitis media OMIM:122470
Chronic Graft Versus Host Disease
Fasciitis, Pancytopenia, Dyspnea, Wheezing, Pneumothorax, Urinary bladder inflammation, Bronchiec... ORPHA:99921
Isolated Arrhinia
Respiratory distress, Eyelid coloboma, Microtia, Absent nasal septal cartilage ORPHA:1134
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract... ORPHA:51890
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Feeding difficulties in infancy, Vomiting OMIM:251110
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Epicanthus, Urethrovaginal fistula, Cryptorchidism, Abdominal distention, Ut... ORPHA:93271
Kindler Epidermolysis Bullosa
Laryngeal stenosis, Camptodactyly of finger, Phimosis, Erythema, Inflammation of the large intest... ORPHA:2908
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Adrenal calcification, Abdominal pain, Abdom... ORPHA:275761
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Posteriorly rotated ears, Cervix cancer, Multinodular goiter, Multiple enchondromatosis OMIM:620189
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation, Sensorineural hearing impairment, Conjunctivitis, ... ORPHA:79241
Interstitial Cystitis
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... ORPHA:37202
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Femur fracture OMIM:612301
Congenital Pulmonary Valvar Stenosis
Laryngeal stenosis ORPHA:3189
Neurooculorenal Syndrome
Subglottic stenosis, Ectopic posterior pituitary, Mixed hearing impairment, Decreased circulating... OMIM:620305
Cleidocranial Dysplasia 1
Respiratory distress, Persistent open anterior fontanelle, Neonatal respiratory distress, Short s... OMIM:119600
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Feeding difficulties in infancy, Vomiting OMIM:251100
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Acrofacial Dysostosis 1, Nager Type
Subglottic stenosis, Sparse lower eyelashes, Posteriorly rotated ears, Short stature, Limited elb... OMIM:154400
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Growth delay, Keratoconjunctivitis sicca, Colitis... ORPHA:309031
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Pulmonary artery sling, Supernumerary nipple, Uplifted earlobe, Short... OMIM:235730
Visceral Myopathy 1
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... OMIM:155310
Colchicine Poisoning
Respiratory distress, Diarrhea, Cardiorespiratory arrest, Vomiting, Nausea ORPHA:31824
Acute Intermittent Porphyria
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Respiratory insuffici... ORPHA:79276
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Protruding ear, Knee dislocation, Gastroesophageal reflux, Neonata... OMIM:619534
Marshall-Smith Syndrome
Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia, Pulmonary art... OMIM:602535
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:991
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Mandibuloacral Dysplasia Progeroid Syndrome
Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Pectus excavatum, Osteoly... OMIM:619127
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... OMIM:171400
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... ORPHA:857
Pachyonychia Congenita
Respiratory distress, Feeding difficulties ORPHA:2309
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Camptodactyly of finger, Spinal canal stenosis, Arthritis, Hip dysplasia, Diaphys... ORPHA:217085
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Abdominal distention OMIM:619362
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Camptodactyly of finger, Spinal canal stenosis, Arthritis, Hip dysplasia, Diaphys... ORPHA:217093
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Subglottic stenosis, Posteriorly rotated ears, Short stature, Partial anomalous pulmonary venous ... OMIM:619657
Frontometaphyseal Dysplasia
Subglottic stenosis, Limited elbow movement, Conductive hearing impairment, Spina bifida occulta,... ORPHA:1826
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Abdominal distention OMIM:618528
Degcags Syndrome
Pancytopenia, Pneumonia, Congenital hypoplastic anemia, Asthma, Hepatosplenomegaly, Anemia, Leuko... OMIM:619488
Fraser Syndrome 2
Abdominal distention, Respiratory failure, Hypoplasia of the thymus, Atresia of the external audi... OMIM:617666
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Loeys-Dietz Syndrome 3
Protrusio acetabuli, Craniosynostosis, Eosinophilic infiltration of the esophagus, Osteoarthritis... OMIM:613795
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Sensorineural hearing impairment, Episodic respiratory distress, Dysphagia, Hepat... ORPHA:255210
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia ORPHA:1465
Charge Syndrome
Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid femur, Scoliosis, Clinod... ORPHA:138
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea, Growth delay, Hyperactive renin-angiotensin system, Hyp... OMIM:214700
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Prominent metopic ridge, Congenital hypothyroidism, Bilateral sensorineural hearing impairment, M... ORPHA:521445
Mirizzi Syndrome
Abdominal colic, Nausea, Abdominal pain, Anorexia, Abdominal distention, Jaundice, Cholesterol ga... ORPHA:521219
African Trypanosomiasis
Miscarriage, Abnormality of the menstrual cycle, Abnormality of the endocrine system, Jaundice, D... ORPHA:3385
Hereditary Spherocytosis
Abdominal pain, Abdominal distention, Jaundice, Gout, Growth delay, Cholelithiasis ORPHA:822
Kasabach-Merritt Syndrome
Respiratory distress, Abdominal pain, Abdominal distention, Hypopnea, Petechiae, Purpura ORPHA:2330
Igg4-Related Dacryoadenitis And Sialadenitis
Palpebral edema, Enlarged lacrimal glands, Thyroiditis, Xerostomia, Abnormality of the orbital re... ORPHA:79078
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Abdominal distention, Rectovaginal fistula, Secretory diarrhea, Low-set ears OMIM:270420
Fanconi-Bickel Syndrome
Growth delay, Abdominal distention, Diabetes mellitus, Hepatic failure ORPHA:2088
Familial Visceral Myopathy
Low-set, posteriorly rotated ears, Abdominal distention, Hyperparathyroidism, Camptodactyly of fi... ORPHA:2604
Restrictive Dermopathy
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Camptodactyly of finger, Thin clavi... ORPHA:1662
Wilson Disease
Hypoparathyroidism, Acute hepatic failure, Abdominal distention, Osteoarthritis, Jaundice, Vomiti... OMIM:277900
Castleman Disease
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Dyspnea, Jaundice, Abdominal distent... ORPHA:160
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Abdominal distention, Pterygium, Ectropion ORPHA:79403
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Death in infancy, Multicystic kidney dysplasia, Hypoperistalsis, Cryptorchid... ORPHA:2241
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Pulmonary arterial hypertension, Recurrent aspiration pneumonia, Blepharitis, Peripheral pulmonar... ORPHA:280633
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:220386
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Asthma, Pneumonia, Otitis media ORPHA:353281
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... ORPHA:733
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Primary Biliary Cholangitis
Abnormality of the thyroid gland, Abdominal distention, Jaundice, Gastrointestinal inflammation, ... ORPHA:186
Fanconi-Bickel Syndrome
Postnatal growth retardation, Abdominal distention, Poor appetite OMIM:227810
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Pulmonary arterial hypertension OMIM:215600
Microvillus Inclusion Disease
Abdominal distention, Diarrhea ORPHA:2290
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Short femur, Delayed closure of the anterior fontanelle, Short neck, Hyp... OMIM:264090
Gallbladder Neuroendocrine Tumor
Anorexia, Abdominal distention, Episodic abdominal pain, Intermittent jaundice, Neuroendocrine ne... ORPHA:100086
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Absent radius, Short thumb, Radial head subluxati... OMIM:214800
Phace Association
Horner syndrome, Lingual thyroid, Congenital hypothyroidism OMIM:606519
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis OMIM:212093
Pancreatoblastoma
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:677
Phace Syndrome
Hypothyroidism, Abnormality of the orbital region, Ectopic thyroid, Ptosis ORPHA:42775
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Multinodular goiter OMIM:618373
Currarino Syndrome
Hemisacrum, Septate vagina, Gastrointestinal obstruction, Abdominal distention, Bifid sacrum, Chr... OMIM:176450
Fontaine Progeroid Syndrome
Pneumothorax, Respiratory insufficiency, Pulmonary hypoplasia, Pulmonary arterial hypertension, R... OMIM:612289
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly of finger, Cra... ORPHA:284984
Colonic Atresia
Abdominal distention ORPHA:1198
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Septic arthritis, Recurrent aspiration pneumonia, Tooth absces... ORPHA:642
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter OMIM:616858
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Pneumonia, Asthma, Otitis media, Aspiration ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Pneumonia, Asthma, Otitis media, Aspiration ORPHA:353277
Linear Skin Defects With Multiple Congenital Anomalies 3
Lacrimal duct atresia, Thyroid C cell hyperplasia OMIM:300952
Metachromatic Leukodystrophy, Late Infantile Form
Feeding difficulties in infancy, Abdominal distention ORPHA:309256
Osteopetrosis With Renal Tubular Acidosis
Pectus excavatum, Prominent floating ribs ORPHA:2785
Metachromatic Leukodystrophy, Adult Form
Abdominal distention, Bilateral sensorineural hearing impairment, Bowel incontinence, Neoplasm of... ORPHA:309271
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abdominal distention, Skin fragility with non-scarring blistering, Microtia, Vomiting, Fragile skin ORPHA:158684
Ulnar-Mammary Syndrome
Subglottic stenosis, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, D... OMIM:181450
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis ORPHA:216694
Metachromatic Leukodystrophy, Juvenile Form
Abdominal distention ORPHA:309263
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Glomuvenous Malformation
Generalized abnormality of skin, Abnormal tracheal morphology ORPHA:83454
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia OMIM:216340
Atresia Of Urethra
Abdominal distention ORPHA:105

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hoxa5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hoxa5.

No publications found that use IMPC mice or data for Hoxa5.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Hoxa5tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Hoxa5tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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