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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 bronchitis OMIM:130700
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Mhc Class I Deficiency 1
Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otiti... OMIM:604571
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Atelectasis, Otitis media OMIM:300455
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis OMIM:615294
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... OMIM:616726
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... ORPHA:922
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis OMIM:619466
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai... OMIM:122600
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Cervical Rib
Cervical ribs OMIM:117900
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosis, Rib fusion, Vertebral segm... OMIM:277300
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Ground-glass opacification, Respiratory tract infection, Chronic bronchitis, Diffuse r... ORPHA:79127
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells, Stomatitis OMIM:618307
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Bronchiectasis ORPHA:1164
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly... ORPHA:3268
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Poland Syndrome
Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, Hemivertebrae, Unilateral brac... OMIM:173800
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Splenomegaly, Pulmonary infiltrates, Pneumothorax, Erythema nodosum,... OMIM:612387
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Short thorax, Vertebral segmentation defect, Missing ribs, Short neck... ORPHA:1797
Bronchopulmonary Dysplasia
Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis ORPHA:70589
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Immunodeficiency 51
Pneumonia, Folliculitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Cutaneous absc... OMIM:613953
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Anemi... OMIM:620321
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Tracheal calcification, Calcification of... ORPHA:3348
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... OMIM:609052
Spondylometaphyseal Dysplasia, Corner Fracture Type
Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of meta... OMIM:184255
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Becker Nevus Syndrome
Pectus carinatum, Abnormal tibia morphology, Supernumerary ribs, Rib fusion, Pectus excavatum, Sp... ORPHA:64755
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Abnormal rib morphology, Abnormal metaphysis... ORPHA:1354
Pulmonary Blastoma
Recurrent pneumonia, Pleuropulmonary blastoma, Pulmonary infiltrates ORPHA:64741
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Nodular pattern on pulmonary HRCT, Plasmacytosis ORPHA:60026
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... OMIM:187760
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Diaphyseal... ORPHA:2790
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Coxa vara, Short palm, Flared, irregular rib ends ORPHA:168555
Ciliary Dyskinesia, Primary, 1
Pneumonia, Nasal polyposis, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis,... OMIM:244400
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Tracheal stenosis, Recurrent bronchopulmonary infections, Tracheobronchmeg... ORPHA:3347
Meconium Aspiration Syndrome
Transient pulmonary infiltrates, Atelectasis, Aspiration pneumonia, Pneumothorax, Abnormal pulmon... ORPHA:70588
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation... OMIM:613686
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal sacrum morpholo... ORPHA:1988
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short thorax, Abnormal metaphysis morp... ORPHA:93304
Kyphomelic Dysplasia
Narrow chest, Abnormal form of the vertebral bodies, Undulate ribs, Missing ribs, Bowing of the l... ORPHA:1801
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Jung Syndrome
Abnormal form of the vertebral bodies, Tracheal stenosis, Telecanthus, Hypothyroidism, Recurrent ... ORPHA:2321
Hypophosphatasia
Emphysema, Anemia ORPHA:436
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell... OMIM:618806
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Hypereosinophilia, Pleural effusion, Parenchymal consolidation, L... ORPHA:2902
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Nasal polyposis, Recurrent oti... OMIM:615518
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Alpha-1-Antitrypsin Deficiency
Hepatitis, Bronchitis, Emphysema, Panniculitis, Bronchiectasis ORPHA:60
Idiopathic Achalasia
Recurrent aspiration pneumonia, Bronchitis ORPHA:930
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Lymphopenia, Thrombocytopenia, Anemia, Pulmonary fibrosis OMIM:620365
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... ORPHA:2357
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Ciliary Dyskinesia, Primary, 42
Pneumonia, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis OMIM:618695
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel... ORPHA:60032
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... OMIM:617405
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Bilateral lung agenesis, Neonatal death OMIM:601612
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Short thorax, ... ORPHA:2311
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Combined Immunodeficiency, X-Linked
Pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:312863
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit... OMIM:608971
Young Syndrome
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... OMIM:279000
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Lumbar hyperlordosis, Genu valgum, Thoracic ... OMIM:609223
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Lumbar hy... OMIM:609616
Acromesomelic Dysplasia, Maroteaux Type
Abnormal form of the vertebral bodies, Vertebral wedging, Bowing of the long bones, Beaking of ve... ORPHA:40
Metatropic Dysplasia
Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Hypoplastic cervical vertebrae, Ab... ORPHA:2635
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis OMIM:247800
Bronchiolitis Obliterans
Pneumonia, Ground-glass opacification, Respiratory tract infection, Bronchiolitis obliterans, Bro... ORPHA:1303
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Pulmonary bulla, Hypochromic microcytic anemia, Pleural thickening, Recurrent lo... OMIM:619632
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bon... OMIM:102510
Primary Ciliary Dyskinesia
Nasal polyposis, Atelectasis, Polysplenia, Recurrent otitis media, Pulmonary situs ambiguus, Resp... ORPHA:244
Hypomandibular Faciocranial Dysostosis
Low-set ears, Downslanted palpebral fissures, Abnormal morphology of female internal genitalia, T... ORPHA:1790
Common Variable Immunodeficiency
Pneumonia, Chronic otitis media, Emphysema, Lymphopenia, Recurrent bronchitis, Otitis media, Sple... ORPHA:1572
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplastic cervical vertebrae, Gastroesophageal reflux, Tracheal calcificatio... ORPHA:79345
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Absent central microtubular pai... OMIM:620032
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Low-set ears, Aplasia/Hypoplasia of the earlobes, Disproportionate short stat... ORPHA:2637
Tracheal Agenesis
Tracheal atresia, Aplasia/Hypoplasia of the lungs ORPHA:3346
Keutel Syndrome
Hearing impairment, Recurrent otitis media, Calcification of cartilage, Recurrent sinusitis, Trac... ORPHA:85202
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Brachyolmia, Maroteaux Type
Platyspondyly, Abnormal form of the vertebral bodies, Short thorax, Pectus excavatum, Scoliosis ORPHA:93302
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Sh... OMIM:614524
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Ground-glass opacification, Parenchymal consolidat... OMIM:610978
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Metaphyseal spurs, Posterior rib cupping, Thoracic hypoplasia, Irregular epiphyses... OMIM:608728
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyseal irregularity, Narr... OMIM:602271
Netherton Syndrome
Eczematoid dermatitis, Emphysema, Skin rash, Erythroderma, Recurrent respiratory infections ORPHA:634
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Abnormality of the ankle... ORPHA:163665
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Goiter, Respiratory distress, Nodular goiter, Tracheoesophageal fistula... ORPHA:142
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism,... ORPHA:3085
Becker Nevus Syndrome
Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs OMIM:604919
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Abnor... ORPHA:93351
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Recurrent sinusitis, Chron... OMIM:615505
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Multiple rib fractures, Wormian bones, Pectus excavatum, Short l... OMIM:259440
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, C... OMIM:612649
Vacterl/Vater Association
Multicystic kidney dysplasia, Bifid scrotum, Abnormal morphology of female internal genitalia, Lo... ORPHA:887
Bardet-Biedl Syndrome 16
Bronchiolitis, Hearing impairment, Respiratory distress, Hypogonadism, Recurrent otitis media, Ex... OMIM:615993
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Narro... OMIM:618395
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98754
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Microlissencephaly
Pneumonia ORPHA:1083
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Hypocomplementemic Urticarial Vasculitis
Emphysema, Episcleritis, Pleural effusion, Skin rash, Splenomegaly, Arthritis, Inflammatory abnor... ORPHA:36412
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Recurrent respiratory infections, Bronchiectasis, Chronic rhi... OMIM:618801
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:98793
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Gro... OMIM:619611
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... ORPHA:2345
Idiopathic Acute Eosinophilic Pneumonia
Abnormal pleura morphology, Abnormal eosinophil morphology, Pulmonary infiltrates ORPHA:724
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Nasal mucosa vasculitis, Tracheal stenosis, Subglottic stenosis, Pul... OMIM:608710
Pendred Syndrome
Hyperparathyroidism, Goiter, Tracheal stenosis, Thyroid carcinoma, Sensorineural hearing impairme... ORPHA:705
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177904
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Abnormal lung lobation, Tracheal stenosis, Cryptorchidism, Aplasia/... ORPHA:3301
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Precocious costochondral ossification, Lumbar hyperlordosis... OMIM:271630
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... ORPHA:177901
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Short neck, Abnormal rib morphology ORPHA:2578
Epiphyseal Dysplasia, Multiple, 6
Arthralgia of the hip, Schmorl's node, Irregular epiphyses, Small epiphyses, Flat distal femoral ... OMIM:614135
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Pectus carinatum, Short iliac bones, Flattened proximal radial epiphyses, Kyphosis... OMIM:271530
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Kyphoscoliosis, Lumbar scoliosis, Premature pubarche, Short stature, Secondary ame... OMIM:612847
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal vertebral morphology, Platyspondyly, Severe short stature, Disproportionate short statur... ORPHA:93352
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... OMIM:271520
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Diaphanospondylodysostosis
Enlarged thorax, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Short t... ORPHA:66637
Acrocapitofemoral Dysplasia
Pectus carinatum, Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck ... ORPHA:63446
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small scrotum, Xerostomia, Absence of pubertal development, Type II diabete... ORPHA:398079
Trisomy X
Precocious puberty, Multicystic kidney dysplasia, Upslanted palpebral fissure, Epicanthus, Abdomi... ORPHA:3375
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen... OMIM:184250
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Radial bowing, Flared metaphysis, Irre... OMIM:602111
Geleophysic Dysplasia 3
Pneumonia, Tracheal stenosis, Subglottic stenosis, Limited elbow movement, Dyspnea, Short stature... OMIM:617809
Hurler-Scheie Syndrome
Growth delay, Camptodactyly of finger, Tracheal stenosis, Contracture of the distal interphalange... OMIM:607015
Immunodeficiency 95
Recurrent viral pneumonia, Ground-glass opacification, Lymphopenia, Recurrent viral upper respira... OMIM:619773
Cerebrofaciothoracic Dysplasia
Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Bifid ribs... ORPHA:1394
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel... ORPHA:51636
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transf... OMIM:269840
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Spondylometaphyseal Dysplasia, Kozlowski Type
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral... OMIM:184252
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Polycystic ovaries, Oligomenorrhea, Abnorm... ORPHA:280356
Prader-Willi Syndrome
Premature adrenarche, Small scrotum, Xerostomia, Central adrenal insufficiency, Cryptorchidism, H... ORPHA:739
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Flared metaphysi... OMIM:187601
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Nasal polyposis,... OMIM:613808
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s... OMIM:615067
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Congenital hypothyroidism, Tracheal stenos... OMIM:601427
Xp22.3 Microdeletion Syndrome
Decreased fertility, Polycystic ovaries, Hypogonadotropic hypogonadism, Short stature, Secondary ... ORPHA:1643
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Clinodactyly, Genu valgum, Cutane... ORPHA:166024
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Kuskokwim Syndrome
Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Abnormal form of the vertebral bo... ORPHA:1149
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Ciliary Dyskinesia, Primary, 13
Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Absent inner dynein arms, Bron... OMIM:613193
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Hepatosplenomegaly, Decreased proportion of class-switched memo... OMIM:619126
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cryptorchi... ORPHA:398069
Pulmonary Hemosiderosis
Iron deficiency anemia, Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Transient pulmon... OMIM:178550
Prader-Willi Syndrome
Small scrotum, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Cryptorchidism, Chronic ... OMIM:176270
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Absen... OMIM:614935
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis OMIM:618449
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short palpebral fissure, Tracheomalacia, Respiratory distress, Tracheal stenosis, Telecanthus, Cr... OMIM:217980
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert... ORPHA:2234
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:615451
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Bilateral cryptorchidism, Respiratory distress, Glandular hypospadias, Bifid scrotum... OMIM:300219
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... ORPHA:1570
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Premature graying of hair, Type II diabetes mellitus, Polycysti... ORPHA:100
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Atelectasis, Granu... OMIM:306400
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615500
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Chronic sinusitis, Chronic... OMIM:614679
Diastrophic Dysplasia
Laryngotracheal stenosis, Neonatal short-limb short stature, Cervical kyphosis, Hypoplastic cervi... OMIM:222600
Eosinophilia, Familial
Leukocytosis, Recurrent bronchitis, Pulmonary infiltrates, Eosinophilia, Thrombocytopenia, Anemia OMIM:131400
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyebrow, Rhizomelia, Hearing impairment, Tracheal calcification, Downslanted palpebral fis... OMIM:302960
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis OMIM:613021
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent otitis media, Ground-glass opa... OMIM:620233
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Tracheal stenosis, Sialadenitis, Hashimoto thyroiditis,... ORPHA:64744
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphology, Abnorma... ORPHA:93267
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... ORPHA:239
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Ulcerative colitis, Colonic eosinophilia, Eosinophilia, Bronchiectasis OMIM:617638
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra... OMIM:615633
Osteogenesis Imperfecta, Type Xv
Thin ribs, Platyspondyly, Scoliosis OMIM:615220
19P13.3 Microduplication Syndrome
Precocious puberty, Low-set ears, Gastroesophageal reflux, Growth delay, Downslanted palpebral fi... ORPHA:447980
Pontine Tegmental Cap Dysplasia
Rib fusion, Scoliosis, Hemivertebrae, Ankle clonus OMIM:614688
Immunodeficiency 116
Recurrent respiratory infections, Bronchiectasis, Absence of CD8-positive T cells OMIM:608957
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Downslanted palpebral fissures, Low-set, posteriorly rotated ears, Hypogonadi... ORPHA:3306
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis, Absent central microtubular pair mor... OMIM:617091
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar ... ORPHA:2319
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... OMIM:266265
Fraser Syndrome 3
Low-set ears, Small scrotum, Abnormal lung lobation, Cryptophthalmos, Tracheal atresia, Simple ea... OMIM:617667
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respira... OMIM:616037
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal hip bone morphology, Short neck, Hyperlordosis, Abnormal r... ORPHA:2522
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Otitis media OMIM:618781
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Chronic bronch... OMIM:608647
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:618254
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology ORPHA:1506
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Stillbirth, Advanced tars... OMIM:269250
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Ptosis, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped... ORPHA:1803
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Short neck, Me... OMIM:613330
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Recurrent bronchit... OMIM:607594
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:619436
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development
Pectus carinatum, Vertebral wedging, Irregular femoral epiphysis, Genu valgum, Bell-shaped thorax... OMIM:255710
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased circulating renin level, Polycystic ovaries... ORPHA:90795
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic sinusitis, Rhinitis, Rec... OMIM:615504
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Bronchiectasis, Nasal polyposis, Chronic sinusitis, Chronic rhinitis, Chroni... OMIM:617092
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eczematoid dermatitis, Atelectasis, Osteomyelitis, Skin rash, Eosinophilia, Recurrent respiratory... ORPHA:2314
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopenia, Conjunctivitis, T lymph... OMIM:601457
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Ciliary Dyskinesia, Primary, 32
Absent respiratory ciliary axoneme radial spokes, Recurrent otitis media, Chronic sinusitis, Chro... OMIM:616481
Microcephaly 30, Primary, Autosomal Recessive
Tracheal stenosis, Intrauterine growth retardation, Long palpebral fissure, Epicanthus, Uplifted ... OMIM:620183
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Hip osteoarthritis, Schmorl's node, Knee osteoarthritis, Beaking of vertebral bodi... OMIM:604864
Congenital Disorder Of Glycosylation, Type Iig
Posterior rib gap, Small hand, Shallow acetabular fossae, Ulnar deviation of finger, Broad femora... OMIM:611209
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Temple Syndrome
Precocious puberty, Nasogastric tube feeding, Decreased response to growth hormone stimulation te... ORPHA:254516
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Lung abscess, Recurrent respir... OMIM:610910
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Recurrent sinusitis OMIM:300991
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Kyphosis, Abnorma... ORPHA:392
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Slender long bone, Abnormal hip bone morphology, Short nec... ORPHA:1486
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Absent outer dynein arms OMIM:614017
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Ground-glass opacification, Ho... ORPHA:2032
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Peripheral pulmonary artery stenosis, Recurrent respiratory infections OMIM:219100
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Arachnodactyly, Rib fusion, Brachydactyly, Ante... ORPHA:377
Diastrophic Dysplasia
Ulnar deviation of finger, Scoliosis, Joint dislocation, Elbow dislocation, Abnormal epiphysis mo... ORPHA:628
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Diffuse reticular or finely nodular infiltrations, Thromboc... OMIM:607616
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Abnormal central microtubular pair morphology of respiratory motile cilia, Chroni... OMIM:612650
Cutis Laxa, Autosomal Dominant 1
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis OMIM:123700
Ciliary Dyskinesia, Primary, 7
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Recurrent otitis... OMIM:611884
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoid vertebral b... OMIM:151210
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Clitoral hypertrophy, Cutis marmorata, Cryptorchidism, Sensorineura... ORPHA:818
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Polysplenia, Oti... OMIM:613807
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Arachnodactyly, Short neck, Thoracol... OMIM:265000
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... ORPHA:91354
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Recurrent sinopulmonary infections, Increased proportion of transitional B cells, D... OMIM:615513
Frontometaphyseal Dysplasia 2
Low-set ears, Congenital hip dislocation, Gastroesophageal reflux, Conductive hearing impairment,... OMIM:617137
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Pectus excavatum, Scoliosis OMIM:618155
Narcolepsy Type 1
Precocious puberty, Constipation, Male sexual dysfunction, Female sexual dysfunction ORPHA:2073
Isolated Agammaglobulinemia
Pneumonia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Otitis media, Skin rash, A... ORPHA:229717
Greenberg Dysplasia
Platyspondyly, Narrow chest, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossifica... ORPHA:1426
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Rhinitis, Absen... OMIM:615444
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Recurrent otitis media, Postnatal growt... ORPHA:254531
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... OMIM:184253
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Low-set ears, Elevated circulating luteinizing hormone level, Abno... ORPHA:95699
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, Monocytopenia, Thromb... OMIM:226990
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Abnormal respiratory motile cilium morphology OMIM:215520
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary venous occlusion, Interlobu... OMIM:265450
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Nocardiosis
Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Liver abscess, Emphysema, Osteomyelitis, ... ORPHA:31204
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Narrow chest, Stillbirth, Flared metaphysis, Short ribs, Advanced ... OMIM:215045
Immunodeficiency 27A
Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pulmonary infiltrates, Increased infla... OMIM:209950
Fraser Syndrome
Small scrotum, Atresia of the external auditory canal, Abnormal vagina morphology, Female pseudoh... ORPHA:2052
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Pulmonary fibrosis, Secondary amenorrhea, Goiter OMIM:617175
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum... ORPHA:538
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Neutropenia in pre... OMIM:619220
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal limb bone morphology, Abn... OMIM:118100
Neonatal Alloimmune Neutropenia
Pneumonia, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Ground-glass opacification, Osteomyelitis, Pleural effusion, Par... ORPHA:1163
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Radio-Tartaglia Syndrome
Precocious puberty, Low-set ears, Highly arched eyebrow, Gastroesophageal reflux, Conductive hear... OMIM:619312
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Rib fusion, Hand polydactyly, Craniosynostosis, Scoliosis ORPHA:261197
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Chronic otitis media, Recurrent sinusitis, B lymphocytopenia, Recur... ORPHA:217390
Complement Factor B Deficiency
Pneumonia, Peritonitis OMIM:615561
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:615139
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Tracheoesophageal fistula, Abnormal form of the vertebral bodies ORPHA:93941
Atelosteogenesis Type I
Platyspondyly, Laryngotracheal stenosis, Low-set ears, Rhizomelia, Joint dislocation, Abnormal pa... ORPHA:1190
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic il... OMIM:300863
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Hearing impairment, Cryptorchidism, Beaking of... OMIM:150250
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Nasal polyposis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:620197
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Interstitial emphysema, Lymphopenia, Bronchiectasis, Pulmona... OMIM:619708
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Avascular necrosis of the ca... OMIM:184100
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty, Downslanted palpebral fissures, Thick eyebrow, Medial flaring of the eyebrow,... OMIM:300801
Distal Deletion 10P
Hearing impairment, Downslanted palpebral fissures, Low-set, posteriorly rotated ears, Intrauteri... ORPHA:1580
White Forelock With Malformations
Finger syndactyly, Clinodactyly of the 5th finger, Sprengel anomaly, Abnormal rib morphology, Spi... ORPHA:2475
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Low-set, posteriorly rotated ears, Postnatal growth retardation, Intrauterine... ORPHA:254525
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Emphysema, Pancytopenia, Pleural effusion, Splenomegaly, Pul... OMIM:181000
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Recurrent otitis media, Decreased testi... OMIM:616222
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Skin rash, Hypoplasia of the thymus, Impaired lymphocyte transfor... OMIM:300400
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Brachydactyly, Hemivertebrae... ORPHA:2180
Perching Syndrome
Respiratory distress, Cyanosis, Scoliosis, Dysphagia, Feeding difficulties OMIM:617055
Fusariosis
Ground-glass opacification, Abnormality of the spleen, Lymphopenia, Pulmonary infiltrates, Neutro... ORPHA:228119
Polyembryoma
Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio... ORPHA:180229
Ciliary Dyskinesia, Primary, 6
Recurrent sinusitis, Sinusitis, Recurrent respiratory infections, Absent/shortened outer dynein a... OMIM:610852
Mosaic Trisomy 14
Narrow chest, Short neck, Abnormal rib morphology, Camptodactyly of finger ORPHA:1703
Seizures, Cortical Blindness, And Microcephaly Syndrome
Bronchiectasis OMIM:616632
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Ground-glass opacification, Lymphocytic interstitial p... ORPHA:133
Basilicata-Akhtar Syndrome
Precocious puberty, Low-set ears, Gastroesophageal reflux, Hearing impairment, Downslanted palpeb... OMIM:301032
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Pulmonary... ORPHA:3392
Lipodystrophy, Familial Partial, Type 3
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Reduced subcuta... OMIM:604367
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Gastroesophageal reflux, Increased circulating cortis... ORPHA:562
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ba... OMIM:223800
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... OMIM:250420
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea... OMIM:253000
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Low-set ears, Elevated circulating luteinizing hormone level, Supernumerary lacrimal punctum, Lac... ORPHA:572333
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Pleural effusion, Nausea and vomiting, Ovarian cyst, Pulmonary edema, E... ORPHA:64739
Larsen-Like Syndrome, Lethal Type
Multiple joint dislocation, Joint dislocation, Neonatal death, Abnormal cartilage matrix, Pulmona... OMIM:245650
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Chronic sinusitis, Absent inner and outer dynein arms, Rhinitis, Chronic otitis m... OMIM:618063
Caspase 8 Deficiency
Pneumonia, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Splenomegaly, Recurrent sinopulmonary ... OMIM:607271
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Interlobular septal thickening OMIM:614370
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Episodic abdominal pain, Decrease... ORPHA:137686
Donohue Syndrome
Precocious puberty, Low-set ears, Clitoral hypertrophy, Long penis, Postnatal growth retardation,... OMIM:246200
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Xp22.13P22.2 Duplication Syndrome
Recurrent upper respiratory tract infections, Hearing impairment, Downslanted palpebral fissures,... ORPHA:284180
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Thoracic hypopla... OMIM:187600
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent otitis media, Splenomegaly, Chronic sinusitis, Arthritis, B lymphocytopenia,... ORPHA:397596
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadenitis, Recurre... OMIM:618986
Pneumocystosis
Combined cystic and ground-glass pattern on pulmonary HRCT, Interstitial pneumonitis, Pleural eff... ORPHA:723
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Joint dislocation, Short thorax, ... ORPHA:582
Hydrolethalus
Low-set ears, Low-set, posteriorly rotated ears, Cryptorchidism, Tracheal atresia, Abnormal fallo... ORPHA:2189
Autosomal Recessive Multiple Pterygium Syndrome
Axillary pterygium, Popliteal pterygium, Finger syndactyly, Abnormal sternum morphology, Camptoda... ORPHA:2990
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplasia of the odontoid process, ... OMIM:607326
Immunodeficiency 62
Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Increased p... OMIM:618459
Kbg Syndrome
Radial deviation of finger, Cervical ribs, Ulnar deviation of the 2nd finger, Thoracic kyphosis, ... OMIM:148050
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T ce... OMIM:300853
Slc35A1-Cdg
Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutropenia, Thromb... ORPHA:238459
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Sho... OMIM:228520
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Polysplenia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... OMIM:615482
Silver-Russell Syndrome
Premature adrenarche, Low-set ears, Precocious puberty, Hypospadias, Abnormal male external genit... ORPHA:813
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abnormal fibula m... ORPHA:3035
Ollier Disease
Precocious puberty, Platyspondyly, Multiple enchondromatosis, Abnormal cartilage morphology ORPHA:296
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hyperinsul... ORPHA:528
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Osteogenesis Imperfecta, Type Ii
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long... OMIM:166210
Staphylococcal Necrotizing Pneumonia
Pneumonia, Leukopenia, Pleural effusion, Parenchymal consolidation, Leukocytosis, Pulmonary infil... ORPHA:36238
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell co... OMIM:617514
Scedosporiosis
Pneumonia, Bronchitis, Osteomyelitis, Apical pulmonary opacity, Arthralgia/arthritis, Sinusitis, ... ORPHA:449280
Smith-Magenis Syndrome
Precocious puberty, Gastroesophageal reflux, Conductive hearing impairment, Abnormal form of the ... ORPHA:819
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Bronchiectasis, Otitis media, Sinusitis, Recurrent respiratory infections, Absen... OMIM:606763
Primary Pulmonary Hypoplasia
Low-set ears, Abnormal pulmonary artery morphology, Patellar hypoplasia, Abnormal tracheal morpho... ORPHA:2257
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Dysmenorrhea... ORPHA:90796
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Splenomegaly, Leukocyt... OMIM:618042
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis... ORPHA:2097
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis ORPHA:2375
Craniofacioskeletal Syndrome
Hypospadias, Short palpebral fissure, Downslanted palpebral fissures, Tracheal stenosis, Intraute... OMIM:300712
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphyse... OMIM:613177
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, M... ORPHA:3082
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Emphysema, Pyelonephritis, Pneumothorax ORPHA:90349
Fibrochondrogenesis
Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Abnormal diaphysis mor... ORPHA:2021
Achondrogenesis, Type Ii
Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent vertebral body ... OMIM:200610
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia OMIM:615228
Bainbridge-Ropers Syndrome
Low-set ears, Supernumerary nipple, Cryptorchidism, Epicanthus, Tube feeding, Precocious puberty,... OMIM:615485
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Recurr... OMIM:616576
Mucopolysaccharidosis, Type X
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... OMIM:619698
Hypersulfaturia
Costochondral pain OMIM:620372
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Intraalveolar phospholipid accumulation OMIM:300770
3M Syndrome
Thin ribs, Congenital hip dislocation, Rocker bottom foot, Scoliosis, Slender long bone, Short th... ORPHA:2616
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Insulin-resistant diabetes mellitus, Polycystic ovaries, Short stature, Secondary amenorrhea, Hyp... OMIM:268020
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia OMIM:619057
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Osteomyelitis, Autoimmune hemolytic anemia, Autoimm... OMIM:608184
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Hepatosplenomegaly, Increased proportion of ... OMIM:618982
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Anisospondyly, Narrow chest, Short thorax, Delay... ORPHA:2484
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Platyspondyly, Fibular overgrowth, Short femoral neck, Flared me... OMIM:602557
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... OMIM:616433
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Arachnodactyly, Missing ribs, Hemivertebrae, Abnormal rib ... ORPHA:2759
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Ulcerative colitis, Pancytopenia, Splenomegaly, Crohn's d... OMIM:618394
Lymphangiectasia, Intestinal
Prominent floating ribs, Stillbirth OMIM:152800
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Recurrent otitis media, Postnatal growt... ORPHA:96184
Zygomycosis
Pulmonary infiltrates, Pustule, Acute infectious pneumonia, Neutropenia, Air crescent sign, Endoc... ORPHA:73263
19P13.12 Microdeletion Syndrome
Precocious puberty, Low-set ears, Hypospadias, Conductive hearing impairment, Intrauterine growth... ORPHA:254346
Achondrogenesis Type 1B
Narrow chest, Abnormal rib morphology, Short neck, Short thorax, Short foot ORPHA:93298
Phaver Syndrome
Ulnar deviation of finger, Broad thumb, Short thumb, Abnormal form of the vertebral bodies, Campt... ORPHA:2876
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Neutropenia OMIM:193670
Hydrolethalus Syndrome 1
Low-set ears, Abnormal vagina morphology, Abnormal lung lobation, Tracheal stenosis, Intrauterine... OMIM:236680
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Feeding difficulties, Decreased fertility, Abnormal c... ORPHA:90794
Cartilage-Hair Hypoplasia
Sparse eyebrow, Rhizomelia, Biconvex vertebral bodies, Abnormal form of the vertebral bodies, Dis... ORPHA:175
Esophageal Atresia
Abnormal vertebral morphology, Hearing impairment, Esophagitis, Episodic respiratory distress, Fe... ORPHA:1199
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Bowing of the long bones, Wormian bones, Abnormal rib morp... ORPHA:2050
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Dystonia 28
Precocious puberty, Hypothyroidism, Dysphagia, Short stature ORPHA:589618
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Diarrhea 12, With Microvillus Atrophy
Bronchiectasis, Respiratory tract infection OMIM:619445
Preeclampsia
Type I diabetes mellitus, Intrauterine growth retardation, Polycystic ovaries, Pulmonary edema, H... ORPHA:275555
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Loeys-Dietz Syndrome 4
Emphysema, Eosinophilic infiltration of the esophagus, Pneumothorax OMIM:614816
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process,... OMIM:300232
Ovarian Fibrothecoma
Abdominal distention, Abnormality of the ovary, Gonadal calcification, Pleural effusion, Metrorrh... ORPHA:314478
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Recurrent sinusitis, Absent circulating B cells, Recurrent lower resp... OMIM:620282
Microphthalmia, Syndromic 3
Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Hemivertebrae, Vertebral fusio... OMIM:206900
Farber Disease
Recurrent upper respiratory tract infections, Hepatic failure, Atelectasis, Respiratory distress,... ORPHA:333
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Anorexia, Nausea and vomiting, Met... ORPHA:370348
Cystic Echinococcosis
Pulmonary cyst, Abnormality of the testis size, Hepatic cysts, Ovarian cyst, Abnormal subpleural ... ORPHA:400
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:615481
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Slc35A2-Cdg
Precocious puberty, Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone con... ORPHA:356961
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Bronchiectasis, Pulmonary infiltrates OMIM:619468
Pallister-Hall Syndrome
Atresia of the external auditory canal, Cryptorchidism, Neonatal death, Radial head subluxation, ... OMIM:146510
Meier-Gorlin Syndrome 6
Emphysema, Recurrent respiratory infections OMIM:616835
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Downslanted palpebral fissures, Bilateral ptosis, Tracheal stenosis, Absent gallblad... ORPHA:163979
Luscan-Lumish Syndrome
Irregular menstruation, Downslanted palpebral fissures, Recurrent otitis media, Polycystic ovarie... OMIM:616831
Geleophysic Dysplasia 1
Platyspondyly, Laryngotracheal stenosis, Joint contracture of the hand, Camptodactyly of finger, ... OMIM:231050
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ... OMIM:144750
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Recurrent upper respiratory tract infections, Chronic bronchitis, B lymphocytopenia OMIM:614069
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent otitis me... OMIM:245150
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Narrow chest, Overlapping toe, Rib fusion, Short neck, Beaking of vertebral bodies, Sprengel anom... OMIM:213980
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Pulmonary infiltrates, Abnormal pulmonary interstitial mo... ORPHA:178320
Optic Pathway Glioma
Precocious puberty, Nausea, Vomiting, Growth delay ORPHA:2086
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Anisocytosis, Poikilocytosis, Dec... OMIM:618278
Carpenter Syndrome 1
Precocious puberty, Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabula... OMIM:201000
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Cardiocranial Syndrome, Pfeiffer Type
Low-set ears, Hypospadias, Growth delay, Contracture of the proximal interphalangeal joint of the... ORPHA:2872
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... OMIM:615363
High Altitude Pulmonary Edema
Nausea and vomiting, Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Anorexia, Dyspnea, Hypoxemi... ORPHA:330012
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Periodontitis, Aplastic anemia, Lymphopenia, Recurrent aphthous stomatitis, Acute lymp... ORPHA:486
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Prominent veins on trunk, Dysmenorrhea, Polycystic ovaries, ... ORPHA:79083
Melioidosis
Pneumonia, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormalit... ORPHA:31202
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect ORPHA:2956
Cog1-Cdg
Posterior rib gap, Butterfly vertebrae, Vertebral segmentation defect, Rib fusion, Kyphoscoliosis... ORPHA:263508
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Gastroesophageal reflux, Cryptorchidism, Gastrostomy tube feeding in infancy, Feeding difficultie... ORPHA:457205
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty, Upslanted palpebral fissure, Hearing impairment, Macrotia OMIM:619877
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Short palpebral fissure, Telecanthus, Upslanted palpebral fissure, Cryptorchi... OMIM:620073
Aicardi Syndrome
Small hand, Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, B... ORPHA:50
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... OMIM:268310
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia ORPHA:90117
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormality of the pulmonary artery ORPHA:363618
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Chst3-Related Skeletal Dysplasia
Abnormal form of the vertebral bodies, Irregular epiphyses, Small epiphyses, Genu valgum, Barrel-... ORPHA:263463
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Skin rash, Gastritis, Per... OMIM:618108
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Bowing of the arm, Bell-shaped thorax, Barrel-shaped chest, Wormian bones, Coxa va... OMIM:619131
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Femoral bowing, Biconcave vertebral bodies, Bowing of the long bones, Wormian bones, V... OMIM:617952
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
9P13 Microdeletion Syndrome
Precocious puberty, Low-set ears, Highly arched eyebrow, Recurrent otitis media, External genital... ORPHA:324313
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Lymphopenia, Hepatosplenomegaly, Otitis media, Eosinop... ORPHA:169160
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Broad clavicles, Narrow chest, Abnormal femora... OMIM:200600
Short Stature And Facioauriculothoracic Malformations
Pectus carinatum, Cervical ribs, Abnormal odontoid process morphology, Short neck, Pectus excavatum OMIM:609654
Immunodeficiency 102
Recurrent upper respiratory tract infections, Reduced natural killer cell count, Increased propor... OMIM:301082
Rudiger Syndrome
Micropenis, Death in infancy, Bicornuate uterus, Ovarian cyst OMIM:268650
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Scoliosis, Hearing impairment ORPHA:457260
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Pleural effusion, Dyspnea, Abnormal lung morpho... ORPHA:50251
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Lujo Hemorrhagic Fever
Atelectasis, Lymphopenia, Leukopenia, Leukocytosis, Skin rash, Maculopapular exanthema, Thrombocy... ORPHA:319213
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Proteus-Like Syndrome
Genu recurvatum, Thymus hyperplasia, Bronchogenic cyst, Abnormality of the parathyroid gland, Dow... ORPHA:2969
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... OMIM:300200
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections ORPHA:596
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypop... ORPHA:163966
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Pneumonia, Atrophic gastritis, Recurrent upper respiratory tract infections, Inflammation of the ... ORPHA:436159
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology ORPHA:2643
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Bronchiectasis, Decreased proportion of CD4-positive T cells ORPHA:477814
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology ORPHA:195
Cooper-Jabs Syndrome
Camptodactyly of finger, Abnormal hip bone morphology, Missing ribs, Abnormal rib morphology, Sco... ORPHA:1488
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Bruising susceptibility, Ovarian cyst, Joint hemorrhage, Menorrhagia ORPHA:327
Autosomal Recessive Robinow Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Synostosis of carpal bones, Elbow dislocation, Sh... ORPHA:1507
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Atelectasis, Recurrent aphthous stomatitis, Chondritis, Episclerit... ORPHA:728
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Ground-glass opacification, Subpleural interstitial t... ORPHA:60025
Garg-Mishra Progeroid Syndrome
Thin ribs, Platyspondyly, Narrow chest, Slender long bone, Persistent open anterior fontanelle, S... OMIM:620601
Achondrogenesis Type 1A
Narrow chest, Multiple rib fractures, Short neck, Short thorax, Short foot, Short palm ORPHA:93299
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Short ribs, H... ORPHA:2347
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ... OMIM:263000
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Diabetes mellitus, Polycystic ovaries ORPHA:79084
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Bilateral ptosis, Respiratory distress, Feeding difficulties in infancy, Dys... ORPHA:254875
45,X/46,Xy Mixed Gonadal Dysgenesis
Hearing impairment, Recurrent otitis media, Streak ovary, Abnormal scrotum morphology, Cryptorchi... ORPHA:1772
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Sarcoidosis
Abnormal pleura morphology, Abnormal nasal mucosa morphology, Erythema nodosum, Tubulointerstitia... ORPHA:797
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Postnatal growth retardation, Radioulnar synostosis, Beaking of vertebral bodies, O... ORPHA:536467
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Pleural effusion, Bronchiectasis, Pulmonary opacity ORPHA:411703
Ciliary Dyskinesia, Primary, 37
Female infertility, Hearing impairment, Goiter, Hypothyroidism, Bronchiectasis OMIM:617577
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... ORPHA:231154
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Eosinophilia, Recurrent respiratory inf... OMIM:618523
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Hearing impairment, Aplasia/hypoplasia of the uterus, Gonadal dysgenes... ORPHA:243
Ciliary Dyskinesia, Primary, 51
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:620438
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered toe, Rib fusion, Clinodactyly of the 5th finger, Sacral dimple, Tapered finger ORPHA:544488
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:79085
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Cryptogenic Organizing Pneumonia
Respiratory distress, Ground-glass opacification, Parenchymal consolidation, Cyanosis, Pneumothor... ORPHA:1302
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiecta... OMIM:619752
Femoral-Facial Syndrome
Toe syndactyly, Humeroradial synostosis, Limited elbow movement, Radioulnar synostosis, Sprengel ... OMIM:134780
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... ORPHA:99725
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty, Gastroesophageal reflux, Hearing impairment, Tracheomalacia, Abnormal shape o... ORPHA:261652
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe... OMIM:618699
Immunodeficiency 77
Bronchiectasis, Cutaneous abscess OMIM:619223
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Scoliosis, Hearing impairment OMIM:300958
Aicardi Syndrome
Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Bifid ribs, H... OMIM:304050
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Kyphosis, Finger syndactyly, Rudimentary fibul... ORPHA:958
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Chronic bronchitis, Sinusitis, T lymphocytopenia, B... OMIM:242860
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Narrow chest, Bowing of the long bones, Wormian bones, Multiple rib fractures, Ang... OMIM:616229
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Acute infectious pneumonia ORPHA:264675
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Acrocyanosis, Death in childhood OMIM:302000
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Delayed cranial suture closure, Respiratory distress, Intrauterine growth retardati... ORPHA:1832
Osteogenesis Imperfecta, Type Iii
Thin ribs, Slender long bone, Tibial bowing, Biconcave vertebral bodies, Wormian bones, Scoliosis... OMIM:259420
Choanal Atresia
Tracheomalacia, Respiratory distress, Subglottic stenosis, Cyanosis, Craniosynostosis, Recurrent ... ORPHA:137914
Cowden Syndrome 6
Varicocele, Thyroid adenoma, Hearing impairment, Subcutaneous lipoma, Goiter, Ovarian cyst, Hypot... OMIM:615109
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty ORPHA:217377
Cowden Syndrome 5
Thyroid adenoma, Hearing impairment, Subcutaneous lipoma, Goiter, Ovarian cyst, Hypothyroidism, H... OMIM:615108
Ellis Van Creveld Syndrome
Emphysema, Acute leukemia, Aplasia/Hypoplasia of the lungs ORPHA:289
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog... ORPHA:435660
Emphysema, Congenital Lobar
Respiratory distress, Bronchial cartilage hypoplasia OMIM:130710
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture... ORPHA:1145
Dysosteosclerosis
Short diaphyses, Platyspondyly, Narrow chest, Broad femoral neck, Flared metaphysis, Broad ribs, ... OMIM:224300
Short Syndrome
Low-set ears, Insulin-resistant diabetes mellitus, Premature skin wrinkling, Telecanthus, Intraut... OMIM:269880
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Periodontitis, Emphysema, Nodular pattern ... OMIM:130050
Coenzyme Q10 Deficiency, Primary, 8
Hearing impairment, Respiratory distress, Postnatal growth retardation, Intrauterine growth retar... OMIM:616733
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty, Scoliosis ORPHA:293181
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal thumb morphology... ORPHA:1120
Koolen-De Vries Syndrome Due To A Point Mutation
Hearing impairment, Recurrent otitis media, Postnatal growth retardation, Cryptorchidism, Epicant... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hearing impairment, Recurrent otitis media, Postnatal growth retardation, Cryptorchidism, Epicant... ORPHA:363958
Three M Syndrome 2
Thin ribs, Short 5th finger, Pectus carinatum, Slender long bone, Clinodactyly, Lumbar hyperlordo... OMIM:612921
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:435651
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Recurrent bronchitis, Recurre... OMIM:240500
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Diarrhea, Vomiting, Postnatal growth retardation, Polycystic ovaries, Dys... ORPHA:79240
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Low-set ears, Hearing impairment, Recurrent otitis media, Reduced subcutaneous adipose tissue, Ex... OMIM:619950
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Sprengel anomaly, Thoracolumbar scoliosis, Cervical ribs OMIM:601389
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia OMIM:245590
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Hepatosplenomegaly, Intersti... OMIM:615952
Angelman Syndrome
Precocious puberty in females, Gastroesophageal reflux, Vomiting, Nasogastric tube feeding, Delay... ORPHA:72
Short-Rib Thoracic Dysplasia 12
Low-set ears, Atelectasis, Intrauterine growth retardation, Neonatal death, Epicanthus, Hypoplast... OMIM:269860
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... ORPHA:3258
Intellectual Developmental Disorder, Autosomal Recessive 76
Feeding difficulties, Precocious puberty in females, Chronic constipation OMIM:619931
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent sinopulmonary infections, Decre... OMIM:614878
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Dysphagia, Abnormal pattern of respiration ORPHA:77260
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... OMIM:614868
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Hyperi... OMIM:262190
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Hearing impairment, Abnormal tracheal morphology, Epicanthus, Blepharophimosis, Pulmonary lymphan... OMIM:616006
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Diarrhea, Vomiting, Polycystic ovaries, Dysmenorrhea, Oligomenorrhea, Del... ORPHA:264580
Holzgreve Syndrome
Abnormal morphology of ulna, Hand polydactyly, Abnormal metacarpal morphology, Abnormal rib morph... ORPHA:2167
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Hearing impairment, Subcutaneous lipoma, Goiter, Ovarian cyst, Ovari... OMIM:158350
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries OMIM:608709
Smith-Lemli-Opitz Syndrome
Low-set ears, Small scrotum, Hearing impairment, Recurrent otitis media, Cryptorchidism, Epicanth... OMIM:270400
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Short thumb, Abnormality of the vertebral column, Preaxial hand po... ORPHA:280
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Constricted iliac wing, Hypoplasia of the odontoid process, Kyphosis, Hypoplasia o... OMIM:253010
Chand Syndrome
Atelectasis ORPHA:1401
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Hearing impairment, Supernumerary nipple, Recurrent otitis media, Downslanted... OMIM:619243
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Respiratory distress, Pleural effusion, Cyanosis, Growth delay ORPHA:2414
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tubular bones ... ORPHA:85184
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Stuve-Wiedemann Syndrome 2
Respiratory distress, Intrauterine growth retardation, Neonatal death, Death in adolescence, Dysp... OMIM:619751
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Congenital Disorder Of Glycosylation, Type Iy
Joint dislocation, Respiratory distress, Feeding difficulties, Scoliosis, Hypospadias, Macrotia OMIM:300934
Double Outlet Right Ventricle
Aplasia/Hypoplasia of the thymus, Cyanosis, Abnormality of cartilage of external ear, Tachypnea, ... ORPHA:3426
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Platyspondyly, Scoliosis, Abnormal epiphysis morphology, Metap... ORPHA:85167
Bent Bone Dysplasia Syndrome 2
Thin ribs, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ... OMIM:620076
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Premature adrenarche, Precocious puberty, Hypospadias, Gastroesophageal reflux, Vomiting, Decreas... ORPHA:96182
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Carpal osteolysis, Abnormal form of the vertebral bodies, Pterygium, Sc... ORPHA:371428
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Iliac crest serr... ORPHA:93317
Neonatal Marfan Syndrome
Emphysema ORPHA:284979
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Pancreatitis, Pulmonary infiltrates ORPHA:70578
Familial Partial Lipodystrophy, Dunnigan Type
Polycystic ovaries, Diabetes mellitus, Secondary amenorrhea, Dysmenorrhea ORPHA:2348
22Q11.2 Deletion Syndrome
Low-set ears, Hearing impairment, Cryptorchidism, Epicanthus, Feeding difficulties in infancy, Pa... ORPHA:567
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Fastin... ORPHA:769
Severe Acute Respiratory Syndrome
Acute infectious pneumonia ORPHA:140896
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Low-set ears, Gastroesophageal reflux, Hearing impairment, Abnormal lung loba... ORPHA:369837
Avian Influenza
Pneumonia, Myelitis, Hepatitis, Ground-glass opacification, Lymphopenia, Leukopenia, Pleural effu... ORPHA:454836
Odontochondrodysplasia 1
Platyspondyly, Genu recurvatum, Biconvex vertebral bodies, Respiratory distress, Mesomelic short ... OMIM:184260
Immunodeficiency 92
Pneumonia, Osteomyelitis, Esophagitis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decre... OMIM:619652
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Diaphyseal sclerosis OMIM:122860
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Decreased proportion of CD8-positive... ORPHA:911
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Broad ribs, Genu valgum, Short neck, Abnormal metaphysis morphology, Kyphos... ORPHA:583
Kyphomelic Dysplasia
Platyspondyly, Radial bowing, Flared metaphysis, Thoracic hypoplasia, Pterygium, Dumbbell-shaped ... OMIM:211350
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Recurrent lower respiratory tract infections, Atelectasis ORPHA:258
Cornelia De Lange Syndrome 6
Pectus carinatum, Short 1st metacarpal, Down-sloping shoulders, Arachnodactyly, Hip dysplasia, Cl... OMIM:620568
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Wormian bones, Short stature ORPHA:2788
Cole-Carpenter Syndrome 2
Thin ribs, Lambdoidal craniosynostosis, Coronal craniosynostosis, Platyspondyly, Wide cranial sut... OMIM:616294
Immunodeficiency 43
Reduced natural killer cell count, Organizing pneumonia, Lung abscess, B lymphocytopenia, Recurre... OMIM:241600
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Joint dislocation, Short finger, Abnormal cervical curvature, Multiple pterygia, Verte... OMIM:312150
Auriculocondylar Syndrome 2A
Low-set ears, Cleft at the superior portion of the pinna, Hearing impairment, Respiratory distres... OMIM:614669
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Kabuki Syndrome 1
Abnormal vertebral morphology, Low-set ears, Anoperineal fistula, Hearing impairment, Recurrent o... OMIM:147920
Ciliary Dyskinesia, Primary, 10
Abnormal respiratory motile cilium morphology, Chronic sinusitis, Chronic otitis media, Recurrent... OMIM:612518
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Anemia, Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly OMIM:620296
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Feeding difficulties in infancy, Ptosis, Apneic episodes precipitated by il... OMIM:605809
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Recurrent otitis media, Genu valgum, Cryptorchidism, Sensorineural ... ORPHA:2152
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Increased circulating cortisol level, Bruising susceptibility, Pigmented micronodular a... OMIM:610475
Maffucci Syndrome
Pituitary adenoma, Growth delay, Goiter, Neoplasm of the parathyroid gland, Dysphagia, Parathyroi... ORPHA:163634
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Low-set ears, Delayed cranial suture closure, Respiratory distress, Telecanthus, Thick eyebrow, U... OMIM:619383
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Irregular menstruation, Rhizomelia, Gastroesophageal reflux, Disproportionate shor... OMIM:616482
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia ORPHA:2590
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Lateral clavicle hook, Horizontal ribs, Shor... OMIM:617895
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Ecz... OMIM:243700
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Atresia of the external auditory canal, Downslanted palpebral fissures, Low-set, posteriorly rota... ORPHA:1770
Digeorge Syndrome
Low-set ears, Recurrent otitis media, Intervertebral disk degeneration, Ovarian cyst, Blepharophi... OMIM:188400
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Low-set ears, Small scrotum, Joint contracture of the hand, Decreased circulating dehydroepiandro... OMIM:201750
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Scoliosis, Thickened ribs OMIM:252900
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Short neck, Horizontal inferior b... OMIM:250220
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymph... OMIM:618495
Presynaptic Congenital Myasthenic Syndromes
Low-set ears, Congenital hip dislocation, Gastroesophageal reflux, Nasal regurgitation, Feeding d... ORPHA:98914
Congenital Myasthenic Syndrome
Low-set ears, Congenital hip dislocation, Gastroesophageal reflux, Nasal regurgitation, Feeding d... ORPHA:590
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Aplastic anemia, Pancytopenia,... OMIM:614742
Sillence Syndrome
Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo... ORPHA:3168
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Abnormal hip bone morphology, Hyperlordosis, Abnormal rib morphology, Clinodact... ORPHA:3068
Oculocerebrorenal Syndrome Of Lowe
Genu valgum, Cryptorchidism, Feeding difficulties in infancy, Patellar dislocation, Chronic otiti... ORPHA:534
Campomelia, Cumming Type
Clubbing of toes, Abnormal thorax morphology, Bowing of the long bones, Brachydactyly, Abnormal r... ORPHA:1318
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
Phosphoserine Aminotransferase Deficiency
Death in infancy, Feeding difficulties, Apnea, Cyanotic episode OMIM:610992
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Ptosis, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia... OMIM:254210
Myhre Syndrome
Precocious puberty, Platyspondyly, Short palpebral fissure, Abnormal penis morphology, Severe sho... ORPHA:2588
Diaphanospondylodysostosis
Low-set ears, Tracheomalacia, Respiratory distress, Intrauterine growth retardation, Absent in ut... OMIM:608022
Immunodeficiency 56
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepatitis due to crypto... OMIM:615207
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Spondylolisthesis, Short ribs, Car... OMIM:252600
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche OMIM:614662
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Cervical ribs, Fibular aplasia, Ap... ORPHA:3320
Chitayat Syndrome
Tracheomalacia, Respiratory distress, Bronchomalacia, Short stature, Abnormal pulmonary interstit... OMIM:617180
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Recurrent otitis media, Genu valgum, Cryptorchidism, Sensorineural ... ORPHA:261537
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Respiratory distress, Dec... ORPHA:226313
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Joint dislocation, Short finger, Abnormal cervical curvature, Multiple pterygia, Verte... OMIM:253290
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Feeding difficulties OMIM:616341
Meier-Gorlin Syndrome 1
Low-set ears, Joint contracture of the hand, Clitoral hypertrophy, Elbow dislocation, Hearing imp... OMIM:224690
Tetrasomy 5P
Low-set ears, Respiratory distress, Postnatal growth retardation, Upslanted palpebral fissure, Cy... ORPHA:3309
Tay-Sachs Disease
Precocious puberty, Hearing impairment, Aspiration pneumonia, Limited elbow extension, Ankle clon... ORPHA:845
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Vertebral segmenta... ORPHA:1834
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Centrilobular ground-glass opacification on pulmonary HRCT, Eczematoid derm... ORPHA:79128
X-Linked Dominant Chondrodysplasia Punctata
Low-set ears, Sparse eyebrow, Anomalous tracheal cartilage, Hypoplastic cervical vertebrae, Downs... ORPHA:35173
Woolly Hair Nevus
Precocious puberty, Enlarged vestibular aqueduct ORPHA:79414
Osteogenesis Imperfecta, Type Viii
Thin ribs, Platyspondyly, Kyphosis, Radial bowing, Slender long bone, Femoral bowing, Tibial bowi... OMIM:610915
Autosomal Agammaglobulinemia
Chronic otitis media, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Neutropenia, Con... ORPHA:33110
Cleidocranial Dysplasia
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Abno... ORPHA:1452
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Low-set ears, Recurrent pneumonia, Sparse lateral eyebrow, Aspiration pneumonia, Respiratory dist... ORPHA:314655
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Growth delay, Elevated circulating thyroid-stimulating hormone concentration... ORPHA:209905
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Nausea, Constipation, Abdominal dis... ORPHA:35122
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea... ORPHA:785
Prune Belly Syndrome
Congenital hip dislocation, Vertebral segmentation defect, Abnormal rib morphology, Pectus excava... ORPHA:2970
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Progeroid facial appearance, Premature graying of hair, Reduced subc... ORPHA:280365
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty OMIM:619356
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Inflammation of the large intestine, Diarrhea, Bruising susceptibility, M... ORPHA:79259
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Short distal phalanx of finger, Short 5th finger, Triangular shaped distal phalanges o... ORPHA:73230
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s... OMIM:613091
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Barrel-s... OMIM:215140
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Bronchiolitis, Emphysema, Pyelonephritis, Bronchiectasis ORPHA:90348
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Brachydactyly, Split hand, Abnormal rib morphology, Craniosynostosis ORPHA:2145
Insulin-Resistance Syndrome Type B
Pneumonia, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fastin... ORPHA:2298
Osteogenesis Imperfecta, Type X
Thin ribs, Platyspondyly, Narrow chest, Thoracic hypoplasia, Broad ribs, Genu valgum, Fibular bow... OMIM:613848
Infantile Systemic Hyalinosis
Severe short stature, Aplasia/Hypoplasia of the thymus, Camptodactyly of finger, Malabsorption, P... ORPHA:2176
Pyknoachondrogenesis
Unossified sacrum, Short iliac bones, Horizontal ribs, Short ribs, Aplastic pubic bone, Poorly os... ORPHA:3003
Cantú Syndrome
Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Broad ribs, Ovoid... ORPHA:1517
Multiple Acyl-Coa Dehydrogenase Deficiency
Vomiting, Respiratory distress, Telecanthus, Renal cortical cysts, Neonatal death, Nausea, Jaundi... OMIM:231680
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Peutz-Jeghers Syndrome
Nasal polyposis, Gastrointestinal hemorrhage, Vomiting, Pancreatic adenocarcinoma, Gastrointestin... ORPHA:2869
Volvulus Of Midgut
Telecanthus, Neonatal intestinal obstruction, Long palpebral fissure, Constipation, Abdominal dis... OMIM:193250
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Thickened ribs OMIM:252920
Kabuki Syndrome
Cryptorchidism, Sensorineural hearing impairment, Vertebral clefting, Hypospadias, Hip dislocatio... ORPHA:2322
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Absent natural killer cells, Recurrent o... OMIM:600802
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Hep... ORPHA:99931
Yellow Nail Syndrome
Rhinitis, Sinusitis, Recurrent respiratory infections, Pleuritis, Bronchiectasis, Neoplasm of the... ORPHA:662
Poland Syndrome
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb... ORPHA:2911
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Small hand, Delayed cranial suture closure, Stenosis of the medullary cavity of the lo... ORPHA:93324
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Abnormal pulmonary interstitial morphology, Pancytopenia, Anemia OMIM:613658
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Thickened ribs, Kyphoscoliosis OMIM:252930
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Nausea and vomiting, Decreased fertility in femal... ORPHA:91349
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Omenn Syndrome
Pneumonia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Erythroderma... ORPHA:39041
Toxic Epidermal Necrolysis
Erythema, Gastrointestinal hemorrhage, Abnormal vagina morphology, Respiratory distress, Acute he... ORPHA:537
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Highly arched eyebrow, Tracheomalacia, Atelectasis, Long eyelashes, Telecanthus, Upslanted palpeb... OMIM:620371
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita... OMIM:614736
Aromatase Deficiency
Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:613546
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun... ORPHA:276
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Elbow dislocation, Abnormal rib morphology, Abnormal form of the ... ORPHA:2769
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary ribs, Scapular winging, Pectus excavatum, Six lumbar vertebrae OMIM:619122
Williams Syndrome
Synostosis of joints, Genu valgum, Type II diabetes mellitus, Cryptorchidism, Nausea and vomiting... ORPHA:904
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Rubinstein-Taybi Syndrome 1
Low-set ears, Hearing impairment, Delayed cranial suture closure, Postnatal growth retardation, C... OMIM:180849
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Metaphyseal cupping, Scoliosis, Flared metaphysis, Short finger, Femoral bowing, T... OMIM:608940
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Hepatos... OMIM:618534
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Recurrent otitis media, Genu valgum, Cryptorchidism, Sensorineural ... ORPHA:261552
Fabry Disease
Emphysema, Anemia, Arthritis ORPHA:324
Neuralgic Amyotrophy
Short stature, Epicanthus, Short palpebral fissure, Acrocyanosis ORPHA:2901
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Lymphope... OMIM:616100
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Abnormal joint morphology, Fibular bowing, S... ORPHA:1427
Congenital Myopathy 10A, Severe Variant
Gastroesophageal reflux, Camptodactyly of finger, Respiratory distress, Dysphagia, Scoliosis OMIM:614399
Opsismodysplasia
Metaphyseal cupping, Hypoplasia of the odontoid process, Narrow chest, Posterior rib cupping, Bel... OMIM:258480
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Growth delay, Bilateral cryptorchidism, Decreased testicular size, C... ORPHA:2326
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Disproportionate short stature, Postnatal growth retardation, Intrauterine gr... OMIM:210720
Congenital Fibrinogen Deficiency
Bruising susceptibility, Hemorrhagic ovarian cyst, Decreased testicular size, Subcutaneous hemorr... ORPHA:335
Craniometadiaphyseal Dysplasia
Flared metaphysis, Broad long bones, Broad ribs, Genu valgum, Wormian bones, Cubitus valgus, Scol... OMIM:269300
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Multinodular goiter, Thyroid nodule OMIM:180295
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob... ORPHA:199241
Robinow Syndrome
Short distal phalanx of finger, Kyphoscoliosis, Missing ribs, Rib fusion, Bifid distal phalanx of... ORPHA:97360
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hearing impairment, Atelectasis, Respiratory distress, Respiratory tract infection, Feeding diffi... ORPHA:365
Primary Effusion Lymphoma
Abdominal pain, Pleural effusion, Abdominal distention ORPHA:48686
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Bulging epiphyses, Bulging of the costochondral junction, Fibula... OMIM:600081
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Recurrent otitis media, Pyoderma, Infectious encephalitis, Pros... OMIM:307200
Congenital Tracheal Stenosis
Abnormal earlobe morphology, Abnormal lung lobation, Respiratory distress, Abnormal tracheal morp... ORPHA:141127
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy... ORPHA:93346
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Ptosis, Short stature, Poor suck OMIM:300580
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Moebius Syndrome
Respiratory distress, Congenital fibrosis of extraocular muscles, Decreased testicular size, Hypo... OMIM:157900
Atelosteogenesis Type Ii
Low-set ears, Rhizomelia, Cervical kyphosis, Hypoplastic cervical vertebrae, Elbow dislocation, E... ORPHA:56304
Radio-Renal Syndrome
Abnormal form of the vertebral bodies, Short neck, Hypoplasia of the radius, Brachydactyly, Abnor... ORPHA:3015
Cardiospondylocarpofacial Syndrome
Cone-shaped epiphysis, Carpal synostosis, Fusion of middle ear ossicles, Herniation of interverte... OMIM:157800
Mogs-Cdg
Short palpebral fissure, Nasogastric tube feeding, Respiratory distress, Long eyelashes, Apnea, E... ORPHA:79330
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Fibrous Dysplasia Of Bone
Precocious puberty in females, Increased circulating cortisol level, Hearing impairment, Thyroid ... ORPHA:249
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Pallister-Hall Syndrome
Small scrotum, Auricular tag, Atresia of the external auditory canal, Hydrometrocolpos, Hypopitui... ORPHA:672
Timothy Syndrome
Pneumonia, Bronchitis OMIM:601005
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Patellar aplasia, ... OMIM:218600
Opitz Gbbb Syndrome
Low-set ears, Hearing impairment, Cryptorchidism, Feeding difficulties in infancy, Thyroglossal c... ORPHA:2745
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia OMIM:253700
Hyperparathyroidism, Transient Neonatal
Low-set ears, Hyperparathyroidism, Gastroesophageal reflux, Respiratory distress, Ovarian cyst, W... OMIM:618188
Wolman Disease
Acute hepatic failure, Vomiting, Death in infancy, Abdominal distention OMIM:620151
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Feeding difficulties in infancy ORPHA:238329
Brown-Vialetto-Van Laere Syndrome 1
Hearing impairment, Respiratory distress, Nocturnal hypoventilation, Death in childhood, Ankle cl... OMIM:211530
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... OMIM:174800
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He... ORPHA:39812
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Low-set ears, Abnormal lung lobation, Hypogonadism, Intrauterine g... OMIM:300514
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology ORPHA:2772
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Supernumerary ri... OMIM:612447
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Bronchiectasis, Osteoarthritis OMIM:620080
Atelis Syndrome 1
Eczematoid dermatitis, Leukopenia, Glue ear, Thrombocytopenia, Anemia, Bronchiectasis OMIM:620184
Combined Oxidative Phosphorylation Deficiency 30
Gastroesophageal reflux, Decreased liver function, Respiratory distress, Death in infancy, Sensor... OMIM:616974
Alexander Disease
Precocious puberty, Nausea and vomiting, Hypothyroidism, Ptosis, Hyperlordosis, Dysphagia, Consti... ORPHA:58
Chromosome 2P16.1-P15 Deletion Syndrome
Low-set ears, Joint contracture of the hand, Hearing impairment, Postnatal growth retardation, Cr... OMIM:612513
Mayer-Rokitansky-Kuster-Hauser Syndrome
Multicystic kidney dysplasia, Hematocolpos, Sparse lateral eyebrow, Downslanted palpebral fissure... OMIM:277000
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Leukocytosis, Pulmonary infiltrates, Irregular septal thickening on p... ORPHA:90060
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... OMIM:602450
Cartilage-Hair Hypoplasia
Asymmetry of the thorax, Abnormal pelvic girdle bone morphology, Metaphyseal cupping, Hypoplasia ... OMIM:250250
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Short neck, Broad phala... OMIM:271665
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Kenny-Caffey Syndrome, Type 1
Thin ribs, Small hand, Slender long bone, Delayed closure of the anterior fontanelle, Long clavic... OMIM:244460
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Wolf-Hirschhorn Syndrome
Pseudoepiphyses of the metacarpals, Kyphosis, Short thumb, Abnormal form of the vertebral bodies,... OMIM:194190
Agnathia-Otocephaly Complex
Low-set ears, Conductive hearing impairment, Tracheomalacia, Downslanted palpebral fissures, Resp... OMIM:202650
Omenn Syndrome
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, Thrombocyt... OMIM:603554
Lethal Congenital Contracture Syndrome 1
Neonatal death, Widening of cervical spinal canal, Pulmonary hypoplasia OMIM:253310
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Absent circulating B cells, Decreased proportion of class-switched memory B cell... OMIM:619705
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis, Downslanted palpebral fissures, Recurrent otitis media, Genu ... OMIM:301066
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Recurrent acute respiratory tract infection, Plantar flexion contracture, P... OMIM:620011
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Nausea and vomiting... ORPHA:91347
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture... ORPHA:93315
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Recurrent upper respiratory tract infections, Recurrent pneumonia, Rhizomelia, Res... OMIM:607143
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, Diarrhea, Feeding difficulties, Abdominal distention, Projecti... OMIM:620045
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Pulmonary infil... ORPHA:139402
Immunodeficiency 36 With Lymphoproliferation
Recurrent upper respiratory tract infections, Lymphopenia, Splenomegaly, Chronic lymphatic leukem... OMIM:616005
Hemochromatosis, Type 1
Impotence, Azoospermia, Pleural effusion, Arthropathy, Telangiectasia, Hypogonadotropic hypogonad... OMIM:235200
Marfan Syndrome
Emphysema, Premature osteoarthritis, Pneumothorax, Pulmonary artery dilatation OMIM:154700
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Prolactinoma
Central adrenal insufficiency, Nausea and vomiting, Decreased fertility in females, Elevated circ... ORPHA:2965
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Malabsorption, Nausea, Abdominal distention, Dyspepsia, Abdominal pain, Chronic diarrhea ORPHA:103907
Orofaciodigital Syndrome Iii
Postaxial foot polydactyly, Short sternum, Postaxial hand polydactyly, Pectus excavatum, Kyphosis OMIM:258850
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter, Short ribs, Mu... OMIM:616897
Panbronchiolitis, Diffuse
Bronchiectasis OMIM:604809
Cntnap2-Related Developmental And Epileptic Encephalopathy
Intermittent hyperventilation, Feeding difficulties, Precocious puberty, Downslanted palpebral fi... ORPHA:163681
Congenital Heart Block
Intrauterine growth retardation, Feeding difficulties in infancy, Pleural effusion, Cyanosis ORPHA:60041
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Faundes-Banka Syndrome
Lumbar hemivertebrae, Low-set ears, Gastroesophageal reflux, Cupped ear, Conductive hearing impai... OMIM:619376
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased circulating ... ORPHA:95619
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention OMIM:616868
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Low-set ears, Severe short stature, Short palpebral fissure, Growth delay, Camptodactyly of finge... ORPHA:3047
X-Linked Hypophosphatemia
Flattening of the talar dome, Shortening of the talar neck, Rachitic rosary, Abnormal epiphysis m... ORPHA:89936
Shwachman-Diamond Syndrome 1
Narrow chest, Proximal femoral epiphysiolysis, Metaphyseal sclerosis, Proximal femoral metaphysea... OMIM:260400
Zttk Syndrome
Small hand, Cervical ribs, Rib fusion, Hemivertebrae, Craniosynostosis, Short foot, Scoliosis, Ky... OMIM:617140
Isolated Atp Synthase Deficiency
Respiratory distress, Hypogonadism, Sensorineural hearing impairment, Hypothyroidism, Ptosis, Sho... ORPHA:254913
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Hypoplastic iliac body, Shor... OMIM:271640
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Pure red cell aplasia, Lymphopenia, Otit... OMIM:613179
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Eversion of lateral third of lower eyelids, Gastroesophageal reflux, Increase... ORPHA:438213
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Micropenis, Scoliosis,... ORPHA:96092
Renpenning Syndrome
Abnormal thumb morphology, Sprengel anomaly, Abnormal rib morphology, Clinodactyly of the 5th fin... ORPHA:3242
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
46,Xy Sex Reversal 1
Elevated circulating luteinizing hormone level, Abnormal male external genitalia morphology, Gona... OMIM:400044
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia ORPHA:98897
Gm1-Gangliosidosis, Type I
Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Scoliosis, Thickened ribs,... OMIM:230500
Tarp Syndrome
Short palpebral fissure, Prominent antihelix, Hearing impairment, Low-set, posteriorly rotated ea... ORPHA:2886
Laryngotracheal Angioma
Vomiting, Intercostal retractions, Respiratory distress, Apnea, Cyanosis, Feeding difficulties ORPHA:137935
Cutis Laxa, Autosomal Recessive, Type Ib
Emphysema, Pulmonary artery aneurysm, Pulmonary artery dilatation OMIM:614437
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Gastroesophageal reflux, Vomiting, Abnormality of the extraocular muscles, Sensorineura... ORPHA:298
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hearing impairment, Cryptorchidism, Chordee, Osteochondrosis, Hypospadias, Dysphagia, Posterior p... ORPHA:268261
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Acetabular dysplasia,... ORPHA:1143
Pediatric-Onset Graves Disease
Diarrhea, Graves disease, Goiter, Puberty and gonadal disorders, Intrauterine growth retardation,... ORPHA:525731
Bacterial Toxic-Shock Syndrome
Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Respiratory tract infection, Skin rash, Infectiou... ORPHA:36234
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Fibu... ORPHA:3144
Mgat2-Cdg
Gastroesophageal reflux, Prominent antihelix, Abnormal earlobe morphology, Downslanted palpebral ... ORPHA:79329
Sponastrime Dysplasia
Precocious puberty, Platyspondyly, Recurrent pneumonia, Shallow acetabular fossae, Hypospadias, D... ORPHA:93357
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Broad ribs, Flaring of rib cage, Joint swelling, Fused cervical vertebrae OMIM:612852
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Narrow chest, Abnormal sacral segmentation, Rudi... OMIM:200980
Thyroid Hemiagenesis
Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ... ORPHA:95719
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Intrauterine growth retardation, Feeding difficulties ORPHA:26792
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Diarrhea, Pheochromocytoma, Medullary thyroid carc... ORPHA:1332
Fraser-Like Syndrome
Subglottic stenosis, Contracture of the proximal interphalangeal joint of the 2nd finger, Ovarian... OMIM:229230
Marfan Syndrome
Emphysema, Spontaneous pneumothorax, Pulmonary artery dilatation, Arthralgia/arthritis ORPHA:558
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Ptosis, Exertional dyspnea, Orthopnea, Thoracic kyphoscoliosis, Scoliosis ORPHA:98913
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... ORPHA:52901
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Broad ribs, Short ribs, Abnormal rib morphology, Postaxial hand poly... ORPHA:2519
Maternal Uniparental Disomy Of Chromosome 2
Abnormality of the ankle, Bilateral cryptorchidism, Decreased response to growth hormone stimulat... ORPHA:96179
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Short palpebral fissure, Gastroesophageal reflux, Interphalangeal joint contract... OMIM:151200
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Kyphoscoliosis OMIM:619099
Antley-Bixler Syndrome
Narrow chest, Camptodactyly of finger, Delayed cranial suture closure, Femoral bowing, Arachnodac... ORPHA:83
Mitochondrial Complex I Deficiency, Nuclear Type 33
Bronchiectasis, Neutropenia, Aspiration pneumonia OMIM:618253
Poems Syndrome
Increased circulating prolactin concentration, Hypogonadism, Sclerotic vertebral endplates, Prima... ORPHA:2905
Mosaic Trisomy 8
Narrow chest, Camptodactyly of finger, Patellar aplasia, Vertebral segmentation defect, Short nec... ORPHA:96061
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad ribs, Broad... OMIM:600002
Lig4 Syndrome
Type II diabetes mellitus, Upslanted palpebral fissure, Cryptorchidism, Telangiectasia, Amenorrhe... OMIM:606593
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Vomiting, Abdominal distention ORPHA:313906
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Toe syndactyly, Finger syndactyly, Split hand, Abnormal rib morphology, Scol... ORPHA:1300
Alagille Syndrome
Short distal phalanx of finger, Abnormal form of the vertebral bodies, Vertebral segmentation def... ORPHA:52
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia ORPHA:204
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Rectal abscess, Recurrent otitis media, Recurrent sinusitis, Neutropenia, B ... OMIM:601495
Myopathy And Diabetes Mellitus
Respiratory distress, Type I diabetes mellitus, Sensorineural hearing impairment ORPHA:2596
Bardet-Biedl Syndrome
Inflammation of the large intestine, Hearing impairment, Hydrometrocolpos, Type II diabetes melli... ORPHA:110
Satoyoshi Syndrome
Abnormality of the uterus, Abnormal joint morphology, Abnormality of the ovary, Abnormality of th... ORPHA:3130
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Nasogastric tube feeding, Intrauterine growth retardation, Knee flexio... ORPHA:284417
Histiocytoid Cardiomyopathy
Vomiting, Cyanosis, Polycystic ovaries, Pulmonary edema, Renal cyst, Tachypnea ORPHA:137675
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Hearing impairment, Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ova... ORPHA:2232
Dysostosis Multiplex, Ain-Naz Type
Severe short stature, Hemivertebrae, Abdominal distention, Flat acetabular roof, Scoliosis, Hip d... OMIM:619345
Meckel Syndrome 14
Low-set ears, Cyanosis, Aplasia of the uterus, Ambiguous genitalia, Pneumothorax, Protuberant abd... OMIM:619879
Primary Hepatic Neuroendocrine Carcinoma
Increased serum serotonin, Diarrhea, Neuroendocrine neoplasm, Anorexia, Facial telangiectasia, He... ORPHA:100085
Peutz-Jeghers Syndrome
Nasal polyposis, Uterine neoplasm, Intestinal bleeding, Bloody diarrhea, Ovarian cyst, Abdominal ... OMIM:175200
Trisomy 13
Abnormal pelvic girdle bone morphology, Narrow chest, Ectrodactyly, Abnormal rib morphology, Post... ORPHA:3378
Immunodeficiency 58
Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic oti... OMIM:618131
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Low-set ears, Short palpebral fissure, Hearing impairment, Respiratory distress, Abnormality of t... OMIM:300968
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Hearing impairment, Goiter, Type ... OMIM:274300
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Ptosis, Dysphagia, Growth delay OMIM:613561
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Bronchiectasis OMIM:615434
Immunodeficiency 12
Recurrent aphthous stomatitis, Skin rash, Abnormal lymphocyte count, Recurrent lower respiratory ... OMIM:615468
Athyreosis
Constipation, Abdominal distention, Short stature, Growth delay, Feeding difficulties ORPHA:95713
Myotonic Dystrophy 1
Cholelithiasis, Respiratory distress, Hypogonadism, Feeding difficulties in infancy, Testicular a... OMIM:160900
Sclerosteosis 1
Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Broad ribs, Sclerot... OMIM:269500
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Thick eyebrow, Protruding ear, Cubitus valg... ORPHA:247768
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Craniosynostosis, Slender long bone, Brachydactyly OMIM:618265
Hypoadrenocorticism, Familial
Vomiting, Adrenal insufficiency, Apnea, Cyanosis, Feeding difficulties in infancy, Adrenal hypopl... OMIM:240200
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Neonatal short-limb short stature, Stillbirth, Abd... OMIM:600972
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Vertebral wedging, Abnormal sternum morphology, Short ribs, Su... OMIM:109400
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Kyphoscoliosis OMIM:617977
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Growth delay, Short stature, Kyphoscoliosis OMIM:163200
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Chronic otitis media ORPHA:169090
1P36 Deletion Syndrome
Scoliosis, Delayed cranial suture closure, Camptodactyly of finger, 11 pairs of ribs, Clinodactyl... ORPHA:1606
Atelosteogenesis, Type I
Low-set ears, Rhizomelia, Disproportionate short-limb short stature, Elbow dislocation, Stillbirt... OMIM:108720
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Eczematoid dermatitis, Decreased proportion of naive T cells, Aplasia of the thymus, A... ORPHA:83471
Nipah Virus Disease
Respiratory distress, Nausea and vomiting, Anorexia, Recurrent pharyngitis ORPHA:99825
Kniest Dysplasia
Platyspondyly, Rhizomelia, Conductive hearing impairment, Tracheomalacia, Respiratory distress, R... OMIM:156550
Lead Poisoning
Vomiting, Abdominal distention, Decreased male libido, Abnormality of the menstrual cycle, Decrea... ORPHA:330015
Alpha-Mannosidosis, Adult Form
Pneumonia, Hepatosplenomegaly, Pancytopenia ORPHA:309288
Laryngotracheoesophageal Cleft
Dyspnea, Recurrent respiratory infections, Cyanosis, Impaired oropharyngeal swallow response ORPHA:2004
Xylt1-Cdg
Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Broad ribs, Short clavicles, Sho... ORPHA:370930
Tuberous Sclerosis 2
Precocious puberty, Hearing impairment, Pulmonary lymphangiomyomatosis, Renal cyst, Hypothyroidis... OMIM:613254
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Absent thumb, Abnormality of the vertebral column, Radial club han... OMIM:276950
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Platyspondyly, Thoracolumbar kyphosis, Multiple joint dislocation, Kyphosis, Elbow flexion contra... ORPHA:93360
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ... ORPHA:2924
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi... OMIM:102700
Chromosome 17Q12 Deletion Syndrome
Highly arched eyebrow, Sparse eyebrow, Multicystic kidney dysplasia, Downslanted palpebral fissur... OMIM:614527
Microsporidiosis
Pneumonia, Bronchiolitis, Vomiting, Bronchitis, Abnormality of the parathyroid gland, Abnormal tr... ORPHA:2552
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Small scrotum, Bifid scrotum, Downslanted palpebral fissures, Low-set, posteriorly rotated ears, ... ORPHA:324540
Small Bowel Atresia
Vomiting, Intrauterine growth retardation, Abdominal distention, Short stature, Feeding difficulties ORPHA:1201
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Ar... OMIM:600920
Congenital Disorder Of Glycosylation, Type Ih
Low-set ears, Diarrhea, Vomiting, Decreased liver function, Decreased circulating T4 concentratio... OMIM:608104
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia ORPHA:216866
Ellis-Van Creveld Syndrome
Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Hypoplastic i... OMIM:225500
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Genu valgum, Type II diabetes mellitus, Cryptorc... ORPHA:91
Martsolf Syndrome 1
Low-set ears, Tracheomalacia, Talipes valgus, Downslanted palpebral fissures, Lumbar hyperlordosi... OMIM:212720
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczematoid dermatitis... OMIM:620565
Oculocerebrofacial Syndrome, Kaufman Type
Short palpebral fissure, Clitoral hypertrophy, Respiratory distress, Thin eyebrow, Telecanthus, U... ORPHA:2707
Microcephalic Primordial Dwarfism, Dauber Type
Subglottic stenosis, Madelung deformity, Lumbar scoliosis, Severe postnatal growth retardation, B... ORPHA:319675
Gaucher Disease, Perinatal Lethal
Low-set ears, Pulmonary hypoplasia, Hepatic failure, Respiratory distress, Intrauterine growth re... OMIM:608013
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Bulging epiphyses, Bulging of the costochondral junction, Fibula... OMIM:241530
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Respiratory distress, Intrauterine growth retardation, Cryptorchidism, Death in ch... OMIM:615597
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Pleural effusion, Ovarian fibroma, Peritonitis, ... ORPHA:314473
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Recurrent respiratory ... ORPHA:79124
Ascher Syndrome
Goiter, Upper eyelid edema, Ptosis, Hypothyroidism, Abnormal eyelid morphology, Blepharophimosis ORPHA:1253
Adult-Onset Still Disease
Neutrophilia, Hepatitis, Interstitial pneumonitis, Skin rash, Leukocytosis, Splenomegaly, Anemia,... ORPHA:829
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Low-set ears, Respiratory distress, Telecanthus, Protuberant abdomen, Short stature, Flat acetabu... OMIM:617102
Diffuse Cutaneous Systemic Sclerosis
Gastroesophageal reflux, Xerostomia, Malabsorption, Nausea and vomiting, Pulmonary infiltrates, T... ORPHA:220393
Q Fever
Pneumonia, Granuloma, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Pleural effusion, Cholecystit... ORPHA:781
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary interstitial morphology ORPHA:97287
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Malnutrition, Malabsorption, Gastrointestinal dysmotility, Constip... OMIM:613662
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Gastroesophageal reflux, Abnormal pleura morphology, Cutis marmorata, Nausea and... ORPHA:183
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Dyspnea, Hypoxemia ORPHA:747
Perrault Syndrome 4
Decreased serum estradiol, Progressive sensorineural hearing impairment, Cubitus valgus, Hypoplas... OMIM:615300
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Scoliosis, Feeding difficulties OMIM:615042
Tuberous Sclerosis 1
Precocious puberty, Pulmonary lymphangiomyomatosis, Renal cyst, Hypothyroidism, Adenoma sebaceum OMIM:191100
Adiposis Dolorosa
Constipation, Abdominal distention OMIM:103200
Arboleda-Tham Syndrome
Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr... OMIM:616268
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Vomiting, Diarrhea, Feeding difficulties OMIM:612075
Lethal Congenital Contracture Syndrome 10
Narrow chest, Broad ribs, Overlapping fingers, Femoral bowing, Thoracic scoliosis, Short neck, Ad... OMIM:617022
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Pectus carinatum, Hypoplastic acetabulae, Hypoplasia of the odontoid proces... OMIM:253200
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Ground-glass opacification, Cyanosis, Tachypnea, D... ORPHA:91359
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Eosinoph... OMIM:158310
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... ORPHA:90301
Premature Ovarian Failure 15
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... OMIM:618096
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Joint contracture of the hand, Chylothorax, Nasogastric tube feeding, Respiratory distress, Knee ... OMIM:620278
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Macrotia, Respiratory distress, Intrauterine growth retardation, Aplasia/Hypoplasia of the eyebro... ORPHA:261304
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Pectus carinatum, Hypoplasia of the odontoid process, Ante... OMIM:253220
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Macrotia, Decreased serum leptin, Hyperinsulinemia, Labial hypertrophy, Dec... OMIM:269700
Hurler Syndrome
Abnormal vertebral morphology, Abnormal epiphysis morphology, Abnormal clavicle morphology, Abnor... ORPHA:93473
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Diarrhea, Increased circulating cortisol level, Pituitary prolactin ce... ORPHA:652
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Postaxial polysyndactyly... OMIM:263520
Acquired Methemoglobinemia
Vomiting, Respiratory distress, Cyanosis, Dyspnea, Abdominal pain, Hypoxemia ORPHA:464453
Thyroid Lymphoma
Goiter, Respiratory distress, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Dyspnea, Dy... ORPHA:97285
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Bronchitis, Otitis media, Recurrent sinusitis, Chronic sinusitis,... ORPHA:420741
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia ORPHA:79264
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Vomiting, Diarrhea, Respiratory distress, Short stature, Jaundice, Growth delay, Feeding difficul... OMIM:250940
Otopalatodigital Syndrome Type 2
Narrow chest, Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Prea... ORPHA:90652
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Laryngotracheal stenosis, Recurrent pneumonia, Disproportionate short sta... ORPHA:508533
Achondroplasia
Rhizomelia, Neonatal short-limb short stature, Conductive hearing impairment, Respiratory distres... OMIM:100800
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Macrotia, Decreased serum leptin, Hyperinsulinemia, Labial hypertrophy, Red... OMIM:608594
Synaptic Congenital Myasthenic Syndromes
Bilateral ptosis, Respiratory distress, Hypoventilation, Limited wrist extension, Ptosis, Exertio... ORPHA:98915
Fraser Syndrome 1
Low-set ears, Clitoral hypertrophy, Atresia of the external auditory canal, Abnormal middle ear m... OMIM:219000
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting, Neonatal death OMIM:615709
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Nasogastric tube feeding, Respiratory distress, External genital hypoplasia, Recurrent respirator... ORPHA:329178
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Gastroesophageal reflux, Hypopnea, Vomiting, Respiratory distress, Apnea, Cyanosis, Death in chil... OMIM:618426
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... ORPHA:443811
Osteogenesis Imperfecta, Type Vii
Narrow chest, Delayed cranial suture closure, Crumpled long bones, Multiple rib fractures, Wormia... OMIM:610682
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Conjunctivitis, Recurrent otitis media, Pyoderma, Epididymitis, Recurrent si... OMIM:300755
Meier-Gorlin Syndrome 3
Low-set ears, Small scrotum, Clitoral hypertrophy, Patellar aplasia, Cryptorchidism, Aplasia/Hypo... OMIM:613803
Kagami-Ogata Syndrome
Thin ribs, Bell-shaped thorax, Kyphoscoliosis, Long fingers, Long clavicles, Coxa valga OMIM:608149
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Sinusitis, Anemia, Recurrent respiratory infecti... ORPHA:169105
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Bulging epiphyses, Bulging of the... OMIM:264700
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Tachypnea, Maternal diabetes, Hypoxemia, Anomalous pulmonary venous return ORPHA:860
Laryngomalacia
Respiratory distress, Abnormal tracheal morphology OMIM:150280
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Hearing impairment, Aspiration pneumonia, Sensorineural hearing im... ORPHA:444077
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Rhizomelia, Cryptophthalmos, Long eyelashes, Epicanthus, Recurrent patellar d... OMIM:615877
Multiple Pterygium-Malignant Hyperthermia Syndrome
Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Arachnodactyly, Tapered fi... ORPHA:2215
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Decreased response to growth hormone stimulation test, External genital hyp... ORPHA:177907
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... OMIM:250790
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Growth delay, Increased circulating... ORPHA:90674
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Abdominal distention, Sensorineural hearing impairment ORPHA:79097
Camptodactyly Syndrome, Guadalajara Type 3
Small hand, Broad femoral neck, Thickened cortex of long bones, Short neck, Abnormal rib morpholo... ORPHA:488434
17Q11 Microdeletion Syndrome
Precocious puberty, Low-set ears, Elevated circulating parathyroid hormone level, Beaking of vert... ORPHA:97685
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs ORPHA:456328
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Low-set ears, Thick eyebrow, Overfolded helix, Rectovaginal fistula, Posterio... OMIM:608980
Mercury Poisoning
Respiratory distress, Interstitial pneumonitis, Episodic abdominal pain, Episodic vomiting, Anore... ORPHA:330021
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m... ORPHA:64
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Occipital Horn Syndrome
Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Persistent open anterior fontanel... OMIM:304150
Orofaciodigital Syndrome I
Low-set ears, Hearing impairment, Downslanted palpebral fissures, Telecanthus, Hepatic cysts, Ova... OMIM:311200
Malaria
Respiratory distress, Nausea and vomiting ORPHA:673
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Epicanthus OMIM:614741
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Platyspondyly, Type I diabetes mellitus, Growth delay, Sensorineural hearing ... OMIM:619269
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Downslanted palpebral fissures, Recurrent otitis media, Cryptorchidism, Cyanosis, Protruding ear,... ORPHA:3304
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Oral-pharyngeal dysphagia, Sensorineural hearing impairment, Premature thelarche, Hypothyroidism,... OMIM:616878
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... OMIM:188570
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Missing ribs, Hand... ORPHA:1647
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis... OMIM:208500
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Increased serum estradiol, ... ORPHA:90797
Gm1 Gangliosidosis Type 1
Platyspondyly, Pectus carinatum, Beaking of vertebral bodies T12-L3, Broad long bone diaphyses, A... ORPHA:79255
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Sparse eyebrow, Downslanted palpebral fissures, Respiratory distress, Sensorineural hearing impai... OMIM:606164
Pendred Syndrome
Goiter, Congenital sensorineural hearing impairment, Thyroid carcinoma, Compensated hypothyroidis... OMIM:274600
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, 11 pairs of ribs, Hemivertebrae ORPHA:77298
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr... ORPHA:454831
Peritoneal Cystic Mesothelioma
Metrorrhagia, Peritonitis, Constipation, Dyspareunia, Abdominal distention, Abdominal pain, Menor... ORPHA:168816
Thyroid Dyshormonogenesis 1
Constipation, Hypothyroidism, Growth delay, Goiter OMIM:274400
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba... OMIM:276820
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Respiratory distress, Long eyelashes, Telecanthus, Acetabular dysplasia, Dea... OMIM:617303
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Endocard... ORPHA:1304
Lissencephaly Syndrome, Norman-Roberts Type
Low-set ears, Respiratory distress, Intrauterine growth retardation, Dysphagia, Feeding difficulties ORPHA:89844
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Short neck, Aplas... OMIM:609945
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Stuve-Wiedemann Syndrome 1
Thin ribs, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic iliac body... OMIM:601559
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Abnormal earlobe morphology, Po... ORPHA:96191
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Stt3B-Cdg
Small scrotum, Respiratory distress, Intrauterine growth retardation, Cryptorchidism, Micropenis,... ORPHA:370924
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Lumbar hyperlordosis, Dyspnea, Abdominal pain, Scoliosis ORPHA:86812
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Prominent antihelix, Growth delay, Joint contracture of the 5th finger, Long eyebrows, Acrocyanos... OMIM:614407
Kleefstra Syndrome
Hearing impairment, Supernumerary nipple, Cryptorchidism, Hypospadias, Chronic otitis media, Bowe... ORPHA:261494
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections ORPHA:98905
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Sensorineural hearing impairment, Primary amenorrhea, Prema... OMIM:617565
Restrictive Dermopathy 2
Gastroesophageal reflux, Respiratory distress, Intrauterine growth retardation, Cyanosis, Feeding... OMIM:619793
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Abnormal form of the vertebral bodies, Hearing impairment, Aplasia of the ovary, V... ORPHA:3109
Mandibulofacial Dysostosis, Guion-Almeida Type
Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Downslanted ... OMIM:610536
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Recurrent upper respiratory tract infections, Central hypothyroidism, Incre... ORPHA:293987
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent thumb, Slender long bone, Cervical ribs, Lumbar hyperlordosis, Kyphoscoliosis, Rib fusion,... ORPHA:500150
H Syndrome
Hearing impairment, Hypogonadism, Abnormal eyebrow morphology, Azoospermia, Upper eyelid edema, D... ORPHA:168569
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Feeding difficulties in infancy, Maternal diabetes ORPHA:45452
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Downslanted palpebral fissures, Respiratory distress, Knee flexion con... OMIM:608799
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Prostate cancer, Papillary thyroid carcinoma, Goiter OMIM:616534
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Genu recurvatum, Joint contracture of the hand, Pectus carinatum, Genu valgum, Arachno... OMIM:182212
Phakomatosis Pigmentokeratotica
Precocious puberty, Pheochromocytoma, Scoliosis, Cryptorchidism ORPHA:2874
Japanese Encephalitis
Genu recurvatum, Diarrhea, Vomiting, Abnormal pattern of respiration, Respiratory distress, Elbow... ORPHA:79139
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Diarrhea, Gastroesophageal reflux, Vomiting, Growth delay, Recurrent infections due to aspiration... OMIM:223900
Thyroid Dyshormonogenesis 2A
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... OMIM:274500
Thyroid Dyshormonogenesis 5
Hypothyroidism, Growth delay, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Growth delay, Goiter OMIM:274800
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Tapered toe, Shoulder flexion contracture, Slender long bone, Thoracic hypoplasia, Elb... OMIM:620369
Necrotizing Enterocolitis
Diarrhea, Vomiting, Hypoactive bowel sounds, Apnea, Cyanosis, Peritonitis, Abdominal rigidity, Ab... ORPHA:391673
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Neonatal death, Tracheoesopha... OMIM:314390
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Vomiting, Diarrhea, Respiratory distress, Reye syndrome-like episodes, Nausea, Feeding difficulti... ORPHA:927
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea, Gastroesophageal reflux ORPHA:1949
Myhre Syndrome
Platyspondyly, Laryngotracheal stenosis, Low-set ears, Hearing impairment, Enlarged vertebral ped... OMIM:139210
Auriculocondylar Syndrome
Abnormality of the crus of the helix, Hearing impairment, Question mark ear, Aplasia/Hypoplasia o... ORPHA:137888
Chromosome 1P36 Deletion Syndrome, Distal
Short 5th finger, Camptodactyly of finger, 11 pairs of ribs, Rib fusion, Delayed closure of the a... OMIM:607872
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Increased circulating free T4 concentratio... OMIM:275000
Campomelic Dysplasia
Low-set ears, Hypoplastic cervical vertebrae, Hearing impairment, Contracture of the distal inter... OMIM:114290
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Delayed cranial suture closure, Hypopituitarism, Decreased circulati... ORPHA:226307
Steinfeld Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Missing ribs, Aplasia/Hypopla... OMIM:184705
Cerebrofacioarticular Syndrome
Conductive hearing impairment, Tracheomalacia, Abnormal tracheal morphology, Absence of pubertal ... ORPHA:314679
Sepsis In Premature Infants
Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointestinal trac... ORPHA:90051
Desmoplastic Small Round Cell Tumor
Ileus, Nausea and vomiting, Testicular neoplasm, Abdominal distention, Abdominal pain, Ovarian ne... ORPHA:83469
Muscular Dystrophy, Congenital, With Or Without Seizures
Type I diabetes mellitus, Progressive hearing impairment, Respiratory distress, Abdominal pain, D... OMIM:620166
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma, Goiter ORPHA:319487
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Asymmetry of the thorax, Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle ... ORPHA:1112
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Recurrent sinusitis, T lymp... OMIM:607944
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Short tibia, Preaxial polydactyly, Horizontal ribs, Long thorax, Fibular hypoplasia... OMIM:617925
Tolchin-Le Caignec Syndrome
Precocious puberty, Low-set ears, Short palpebral fissure, Hooded eyelid, Thick eyebrow, Sensorin... OMIM:618971
Idiopathic Hypereosinophilic Syndrome
Ankle swelling, Vomiting, Abdominal distention, Angioedema, Respiratory distress, Cutis marmorata... ORPHA:3260
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin ribs, Lumbar hemivertebrae, Thin metatarsal cortices, Thin metacarpal cortices, Slender long... ORPHA:2463
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Bruising susceptibility ORPHA:721
Odontochondrodysplasia
Platyspondyly, Respiratory distress, Death in infancy, Short stature, Scoliosis ORPHA:166272
Schwartz-Jampel Syndrome
Elbow dislocation, Genu valgum, Hip contracture, Bowing of the long bones, Short neck, Sprengel a... ORPHA:800
Ethylene Glycol Poisoning
Vomiting, Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Pulmonary ede... ORPHA:31826
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Panhypophysitis
Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Sensor... ORPHA:95513
Pulmonary Arteriovenous Malformation
Gastrointestinal infarctions, Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Dyspnea... ORPHA:2038
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Highly arched eyebrow, Female infertility, Cupped ear, Telecanthus, Ameno... OMIM:110100
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Multicystic kidney dysplasia, Vomiting, Malnutrition, Respiratory distress, Laryngeal ... ORPHA:79404
Alstrom Syndrome
Irregular menstruation, Recurrent pneumonia, Progressive sensorineural hearing impairment, Insuli... OMIM:203800
Floating-Harbor Syndrome
Precocious puberty, Low-set ears, Varicocele, Gastroesophageal reflux, Conductive hearing impairm... ORPHA:2044
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs OMIM:614833
46,Xy Partial Gonadal Dysgenesis
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,... ORPHA:251510
Adnp Syndrome
Low-set ears, Recurrent upper respiratory tract infections, Gastroesophageal reflux, Vomiting, Or... ORPHA:404448
Matthew-Wood Syndrome
Abnormal lung morphology, Abnormal spleen morphology, Pulmonary hypoplasia ORPHA:2470
Al Amyloidosis
Gastrointestinal hemorrhage, Xerostomia, Bruising susceptibility, Gastroparesis, Abdominal disten... ORPHA:85443
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Chromosome 6Q24-Q25 Deletion Syndrome
Low-set ears, Short palpebral fissure, Cupped ear, Hooded eyelid, Respiratory distress, Intrauter... OMIM:612863
Arterial Tortuosity Syndrome
Short palpebral fissure, Gastroesophageal reflux, Respiratory distress, Esophagitis, Pulmonary ar... ORPHA:3342
Gracile Bone Dysplasia
Thin ribs, Slender long bone, Brachydactyly, Flared metaphysis OMIM:602361
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Progeroid facial appearance, Insulin-resistant diabetes mellitus, Polycystic ov... ORPHA:79086
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Nasogastric tube feeding in infancy, Poor suck ORPHA:254864
Ear-Patella-Short Stature Syndrome
Low-set ears, Clitoral hypertrophy, Elbow dislocation, Hearing impairment, Atresia of the externa... ORPHA:2554
Weill-Marchesani Syndrome 1
Broad phalanges of the hand, Spinal canal stenosis, Broad ribs, Lumbar hyperlordosis, Brachydacty... OMIM:277600
Lethal Congenital Contracture Syndrome 5
Thin ribs OMIM:615368
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism, Hearing impairment OMIM:228355
Klippel-Trénaunay Syndrome
Abnormality of the menstrual cycle, Gastrointestinal hemorrhage, Abnormality of the pulmonary artery ORPHA:90308
Cryptococcosis
Pneumonia, Vomiting, Respiratory distress, Nodular pattern on pulmonary HRCT, Pleural effusion, P... ORPHA:1546
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leukopenia, Interstitial pneumon... OMIM:127550
Immunodeficiency 23
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Lymphopenia, Abscess... OMIM:615816
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Low-set ears, Disproportionate short-limb short stature, Abdominal distention, Gen... ORPHA:85166
Carey-Fineman-Ziter Syndrome
Growth delay, Downslanted palpebral fissures, Glandular hypospadias, Laryngeal stenosis, Epicanth... ORPHA:1358
Hirschsprung Disease, Susceptibility To, 1
Vomiting, Abdominal distention, Enterocolitis, Constipation OMIM:142623
Shigellosis
Pneumonia, Microangiopathic hemolytic anemia, Ulcerative colitis, Leukocytosis, Abscess, Peritoni... ORPHA:810
Succinic Acidemia
Respiratory distress OMIM:600335
Wiskott-Aldrich Syndrome
Hematochezia, Inflammation of the large intestine, Blepharitis, Bruising susceptibility, Spontane... ORPHA:906
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Elevated circulating parathyroid hormone level, Elevated circulating thyr... OMIM:101800
Congenital Syphilis
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Anemia, Pancre... ORPHA:499009
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplastic pelvis, Bell-... OMIM:616300
Listeriosis
Pneumonia, Abnormal cellular immune system morphology, Arteritis, Brain abscess, Liver abscess, O... ORPHA:533
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Vomiting, Respiratory distress, Episodic tachypnea, Tachypnea, Jaundice, Feeding diffi... ORPHA:26793
Primary Peritoneal Carcinoma
Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain ORPHA:168829
Coccidioidomycosis
Pneumonia, Hearing impairment, Abnormality of the male genitalia, Respiratory distress, Exudative... ORPHA:228123
Pitt-Hopkins Syndrome
Abnormal helix morphology, Gastroesophageal reflux, Growth delay, Abnormal pattern of respiration... ORPHA:2896
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Aplasia/Hypoplasia of the earlobes, Bifid scrotum, Downslanted palpebral fissures, Respiratory di... ORPHA:1555
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia ORPHA:240103
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Gastrostomy tube feeding in infancy, Sensorineural hearing impairment, Scol... ORPHA:544503
Schinzel-Giedion Syndrome
Low-set ears, Abnormal helix morphology, Streak ovary, Radioulnar synostosis, Infantile sensorine... ORPHA:798
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Spondyloenchondrodysplasia
Pneumonia, Granuloma, Hepatitis, Pancytopenia, Skin rash, Autoimmune hemolytic anemia, Arthritis,... ORPHA:1855
Hsd10 Disease, Infantile Type
Cyanosis, Gastrointestinal dysmotility, Dysphagia, Hearing impairment ORPHA:391428
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia ORPHA:79243
Absence Of The Pulmonary Artery
Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Orthopnea, Abnormal pulmonary thoraci... ORPHA:980
Trisomy 1Q
Toe syndactyly, Short thorax, Camptodactyly of finger, Preaxial hand polydactyly, Arachnodactyly,... ORPHA:261344
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Infancy onset short-trunk short stature, Epicanthus, Feeding difficu... ORPHA:508488
Bloom Syndrome
Pneumonia, Bronchitis, Acute lymphoblastic leukemia, Respiratory tract infection, Otitis media, S... ORPHA:125
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Low-set ears, Coronal craniosynostosis, Pulmonary hypoplasia, Cholelithiasis, Pancreatic hypoplas... ORPHA:83617
Monosomy 9Q22.3
Abnormality of the vertebral column, Abnormal rib morphology, Polydactyly, Short neck, Metopic sy... ORPHA:77301
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone... OMIM:617442
Craniofaciofrontodigital Syndrome
Lower eyelid edema, Gastrointestinal hemorrhage, Gastroesophageal reflux, Premature skin wrinklin... ORPHA:363705
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Viss Syndrome
Atopic dermatitis, Pulmonary artery aneurysm, Eczematoid dermatitis, Emphysema, Chronic gastritis... OMIM:619472
Breath-Holding Spells
Cyanosis OMIM:607578
Immunodeficiency 31C
Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Lymphopenia, Autoimmune ... OMIM:614162
Neurofibromatosis Type 1
Precocious puberty, Kyphosis, Hearing impairment, Pheochromocytoma, Genu valgum, Cryptorchidism, ... ORPHA:636
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Low-set ears, Downslanted palpebral fissures, Respiratory distress, Hydrometrocolpos, Aplasia of ... OMIM:617088
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Low-set ears, Hepatic failure, Abdominal distention, Abnormality of the uterus, Downslanted palpe... ORPHA:1655
Bangstad Syndrome
Severe short stature, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Goiter OMIM:210740
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Papillary thyroid carcinoma, Goiter ORPHA:97290
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Labial pseudohypertrophy, Hyperinsulinemia, Type II diabetes... OMIM:151660
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Posterior rib fusion, Butterfly vertebrae, Neonatal death OMIM:265380
Myasthenia Gravis
Rheumatoid arthritis, Hearing impairment, Primary adrenal insufficiency, Hashimoto thyroiditis, P... ORPHA:589
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Horizontal ribs OMIM:614857
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p... ORPHA:653
Cerebrocostomandibular Syndrome
Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Rib gap, Elbow flexion contra... OMIM:117650
Familial Adenomatous Polyposis 4
Renal cyst, Thyroid adenoma, Ovarian cyst, Uterine leiomyoma OMIM:617100
Kaposiform Lymphangiomatosis
Abnormal form of the vertebral bodies, Bruising susceptibility, Pleural effusion, Metrorrhagia, E... ORPHA:464329
Proteus Syndrome
Low-set ears, Pulmonary cyst, Pulmonary bulla, Hip dislocation, Macrotia, Vascular skin abnormali... ORPHA:744
Chops Syndrome
Gastroesophageal reflux, Hearing impairment, Tracheomalacia, Aspiration pneumonia, Gastroparesis,... OMIM:616368
Severe Congenital Nemaline Myopathy
Thin ribs, Abnormal thorax morphology, Adducted thumb ORPHA:171430
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Low-set ears, Hepatic failure, Abdominal distention, Downslanted palpebral fissures, Pancreatic l... OMIM:235255
Atypical Werner Syndrome
Subcutaneous calcification, Insulin-resistant diabetes mellitus, Premature graying of hair, Hyper... ORPHA:79474
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain ORPHA:160148
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea, Vomiting, Death in infancy OMIM:614299
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Gastrointestinal hemorrhage, Diarrhea, Growth delay, Recurrent aphthous stomatitis, Int... ORPHA:343
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia ORPHA:35069
Beare-Stevenson Cutis Gyrata Syndrome
Hypospadias, Atresia of the external auditory canal, Bifid scrotum, Downslanted palpebral fissure... OMIM:123790
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Reduced natural killer cell count, Bronchitis, Pustular rash, Hepatitis, Recurrent oti... OMIM:619381
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Shwachman-Diamond Syndrome
Pneumonia, Normocytic anemia, Aplastic anemia, Eczematoid dermatitis, Increased mean corpuscular ... ORPHA:811
Nasolacrimal Duct Cyst
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress, Chronic irritative co... ORPHA:141083
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Nausea and vomiting, Anorexia, Abdominal pain, Feeding difficulties ORPHA:79312
Lethal Recessive Chondrodysplasia
Respiratory distress, Flared elbow metaphyses ORPHA:1423
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Thoracic hypoplasia, Overlapping toe, Wrist flexion contracture, Long toe, Flexion contracture of... ORPHA:254528
Cystic Fibrosis
Recurrent pneumonia, Nasal polyposis, Hepatosplenomegaly, Chronic sinusitis, Pancreatitis, Recurr... OMIM:219700
Premature Aging Syndrome, Penttinen Type
Thin ribs, Short distal phalanx of finger, Slender long bone, Delayed cranial suture closure, Cer... OMIM:601812
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Normocytic anemia, Skin rash, Normochromic anemia ORPHA:247691
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Rhizomelia, Respiratory distress, Intrauterine growth retardation, Tube feed... OMIM:616271
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Renal cyst, Abdominal distention OMIM:174050
Visceral Myopathy, Familial, With External Ophthalmoplegia
Malnutrition, Gastroparesis, Ptosis, Abdominal distention, Abdominal pain OMIM:277320
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Abnorm... ORPHA:293978
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Low-set ears, Bilateral conductive hearing impairment, Atresia of the external auditory canal, Ep... OMIM:620186
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Hypothyroidism, Nausea and vomiting, Goiter ORPHA:83601
Familial Dysautonomia
Gastroesophageal reflux, Growth delay, Abnormal pleura morphology, Feeding difficulties in infanc... ORPHA:1764
Sheehan Syndrome
Central adrenal insufficiency, Sensorineural hearing impairment, Decreased serum estradiol, Breas... ORPHA:91355
Episodic Ataxia Type 1
Respiratory distress, Nausea, Scoliosis, Kyphoscoliosis ORPHA:37612
Branchiootorenal Syndrome 1
Congenital hip dislocation, Dilatated internal auditory canal, Cupped ear, Conductive hearing imp... OMIM:113650
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Glutaric Aciduria Iii
Diarrhea, Vomiting, Hyperthyroidism, Goiter OMIM:231690
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Recurrent pneumonia, Bronchiectasis OMIM:301220
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Fanconi Anemia, Complementation Group F
Pneumonia, Anemia, Leukopenia, Thrombocytopenia OMIM:603467
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Vomiting, Nausea, Abdominal distention ORPHA:90003
Alfadhel Syndrome
Low-set ears, Highly arched eyebrow, Nasal flaring, Short stature OMIM:620655
Blepharochalasis And Double Lip
Blepharochalasis, Goiter OMIM:109900
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Short stature, Delayed puberty, Abdominal distention, Growth delay ORPHA:369
Kagami-Ogata Syndrome
Thoracic hypoplasia, Bell-shaped thorax, Kyphoscoliosis, Short neck, Coat hanger sign of ribs, Co... ORPHA:254519
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Elbow flexion contracture, Thoracic scoliosis, Pilonidal sinus, Hypoplastic... OMIM:252940
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Pulmonary hypoplasia, Abnormal lung lobation OMIM:615415
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Vomiting, Abnormal peristalsis, Abdominal distention, Steatorr... OMIM:615237
Cowden Syndrome
Abnormal penis morphology, Follicular thyroid carcinoma, Hearing impairment, Abnormality of the u... ORPHA:201
Combined Oxidative Phosphorylation Deficiency 53
Death in childhood, Death in infancy, Arthritis, Abdominal distention, Septic arthritis, Short st... OMIM:619423
Thyroid Ectopia
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the ... ORPHA:95712
Hydatidiform Mole
Menometrorrhagia, Nausea and vomiting, Enlarged uterus, Hyperthyroidism, Miscarriage ORPHA:99927
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Mirage Syndrome
Aspiration pneumonia, Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen OMIM:617053
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Nausea and vomiting, Growth delay ORPHA:289916
Hutchinson-Gilford Progeria Syndrome
Prominent ear helix, Absent eyebrow, Female hypogonadism, Hip dislocation, High-frequency sensori... ORPHA:740
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Diarrhea, Vomiting, Postnatal growth retardation, Recurrent aphthous st... OMIM:212750
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Vomiting, Growth delay, Apnea, Upslanted palpebral fissure, Cyanosis, Sensorineu... OMIM:252010
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Gastroesophageal reflux, Vomiting, Growth delay, Respiratory distress, Apnea, Sensorineural heari... ORPHA:17
Thyrocerebrorenal Syndrome
Euthyroid goiter, Sensorineural hearing impairment ORPHA:3327
Osteogenesis Imperfecta
Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Bowing of the lon... ORPHA:666
Cocaine Intoxication
Diffuse alveolar hemorrhage, Vomiting, Respiratory distress, Gastrointestinal infarctions, Pulmon... ORPHA:90068
Craniotubular Dysplasia, Ikegawa Type
Platyspondyly, Broad femoral neck, Broad ribs, Increased intervertebral space, Diaphyseal dysplas... OMIM:619727
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Malabsorption, Chronic diarrhea, Abdominal distention OMIM:606824
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Gastroesophageal reflux, Encopresis, Cryptorchidism, Constipation, Scoliosis,... OMIM:616682
Encephalopathy, Ethylmalonic
Petechiae, Death in infancy, Chronic diarrhea, Acrocyanosis, Feeding difficulties OMIM:602473
Lenz-Majewski Hyperostotic Dwarfism
Broad clavicles, Flared metaphysis, Delayed cranial suture closure, Hyperextensibility of the fin... OMIM:151050
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Glandular hypospadias, Pulmonary hypoplasia OMIM:620306
Cystic Fibrosis
Nasal polyposis, Pneumothorax, Sinusitis, Recurrent lower respiratory tract infections, Recurrent... ORPHA:586
Carnitine Deficiency, Systemic Primary
Respiratory distress, Vomiting, Diarrhea OMIM:212140
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Dysphagia OMIM:620375
Holocarboxylase Synthetase Deficiency
Respiratory distress, Nausea and vomiting, Keratoconjunctivitis, Tachypnea, Anorexia, Growth delay ORPHA:79242
Ulbright-Hodes Syndrome
Low-set ears, Abnormal penis morphology, Clitoral hypertrophy, Respiratory distress, Postnatal gr... ORPHA:3404
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Increased circulating T4 concentration, Increased circulating free T4 concentration, Hype... OMIM:613239
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Dravet Syndrome
Limited knee extension, Cyanotic episode ORPHA:33069
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Goiter OMIM:274240
Osteoglophonic Dysplasia
Platyspondyly, Low-set ears, Rhizomelia, Severe short stature, Growth delay, Camptodactyly of fin... OMIM:166250
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed... OMIM:614324
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent aspiration pneumonia, Recurrent pneumonia OMIM:300472
Craniorachischisis
Bifid sternum ORPHA:63260
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Palpebral edema, Erythema, Angioedema ORPHA:100057
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Pleural effusion, Cyanosis, Pulmonary edema, Feeding difficulties OMIM:261740
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Brain abscess, Hemolytic anemia, Leukocytosis, Respiratory tract infection, Pancreatit... ORPHA:544482
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Complete Atrioventricular Septal Defect
Recurrent pneumonia, Intercostal retractions, Cyanosis, Tachypnea, Feeding difficulties ORPHA:1329
Nestor-Guillermo Progeria Syndrome
Thin ribs, Limited elbow movement, Wide cranial sutures, Delayed closure of the anterior fontanel... OMIM:614008
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Feeding difficulties in infancy, Paroxysmal dyspnea ORPHA:444013
Multiple Endocrine Neoplasia, Type Iib
Elevated circulating calcitonin concentration, Diarrhea, Pheochromocytoma, Thick eyebrow, Medulla... OMIM:162300
Autosomal Dominant Centronuclear Myopathy
Thin ribs ORPHA:169189
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Growth delay, Ectopic anterior pituitary gland, Decreased response t... ORPHA:90695
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Cyanosis, Tachypnea, Hypoxemia, Anomalous pulmonary venous return ORPHA:555874
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Telecanthus, Upslanted palpebral fissure, Epicanthus, Long palpebral fissur... ORPHA:438216
Lymphatic Malformation 7
Chylothorax, Respiratory distress, Pleural effusion, Pulmonary edema, Abdominal distention OMIM:617300
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Gastroesophageal reflux, Intrauterine growth retardation, Knee contracture, Death in infancy, Abd... OMIM:620275
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Vomiting, Intestinal pseudo-obstruction, Downslanted palpebral fissures, Feeding difficulties in ... OMIM:300048
Tuberous Sclerosis Complex
Pituitary adenoma, Generalized abnormality of skin, Respiratory distress, Pheochromocytoma, Retin... ORPHA:805
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Low-set ears, Anteverted ears, Short palpebral fissure, Sparse eyebrow, Tracheomalacia, Downslant... OMIM:620654
Hypothyroidism, Congenital, Nongoitrous, 2
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased c... OMIM:218700
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis ORPHA:2135
Gaucher Disease, Type Ii
Bronchiolitis, Splenomegaly, Thrombocytopenia, Anemia, Recurrent aspiration pneumonia OMIM:230900
Hemihyperplasia-Multiple Lipomatosis Syndrome
Telangiectasia of the skin, Ovarian serous cystadenoma, Hydrocele testis, Scoliosis, Microtia ORPHA:276280
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Feeding difficulties in infancy, Hypothyroidism, Short stature, Prolonged ne... OMIM:225750
Wolman Disease
Hepatic failure, Malnutrition, Nausea and vomiting, Abdominal distention, Steatorrhea, Growth delay ORPHA:75233
Vater/Vacterl Association
Abnormal vertebral morphology, Short thumb, Abnormal rib morphology, Preaxial polydactyly, Abnorm... OMIM:192350
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Feeding difficulties, Irregular respiration OMIM:604377
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Symblepharon, Trichiasis, Abnormal penis morphology, Vaginal dryness, Diarrhea, Xerost... ORPHA:95455
Atrial Septal Defect, Ostium Primum Type
Pulmonary artery dilatation, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea, Recurrent respirat... ORPHA:99106
Pediatric Systemic Lupus Erythematosus
Vomiting, Diarrhea, Pleural effusion, Arthritis, Abdominal distention, Dyspnea, Abdominal pain ORPHA:93552
Schinzel-Giedion Midface Retraction Syndrome
Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista... OMIM:269150
Structural Heart Defects And Renal Anomalies Syndrome
Low-set ears, Cyanosis, Death in infancy, Renal cyst, Partial anomalous pulmonary venous return OMIM:617478
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Malnutrition, Malabsorption, Small intestinal dysmotility, Enterocolitis, Con... ORPHA:95427
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Palpebral edema, Abnormal circulating calcium-phosphate regulating hormone ... ORPHA:50810
Hypoglossia With Situs Inversus
Respiratory distress, Low-set ears, Feeding difficulties in infancy, Malnutrition OMIM:612776
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Congenital hip dislocation, Erythema, Hearing impairment, Stillbirth, Adrenal hypoplasia, Vertebr... OMIM:308050
Thyroid Hypoplasia
Thyroid hypoplasia, Hypothyroidism, Constipation, Abdominal distention, Short stature, Jaundice, ... ORPHA:95720
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Ground-glass opacification, Pulmonary hemorrhage, Nodular pa... OMIM:233450
Shwachman-Diamond Syndrome 2
Low-set ears, Diarrhea, Exocrine pancreatic insufficiency, Subglottic stenosis, Death in childhoo... OMIM:617941
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Aspiration pneumonia ORPHA:1018
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis, Growth delay OMIM:250800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent respiratory infections, Hypoperistalsis, Abdominal distention OMIM:619365
Autosomal Dominant Progressive External Ophthalmoplegia
Gastroesophageal reflux, Hearing impairment, Goiter, Gastroparesis, Hypothyroidism, Exertional dy... ORPHA:254892
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Lumbar hyperlordosis, Long eyelashes, Telecanthus, Recurrent gastroenteriti... ORPHA:505248
Fructose-1,6-Bisphosphatase Deficiency
Diarrhea, Vomiting, Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apne... ORPHA:348
Van Maldergem Syndrome 2
Hearing impairment, Atresia of the external auditory canal, Cryptorchidism, Sensorineural hearing... OMIM:615546
Hermansky-Pudlak Syndrome
Menometrorrhagia, Gastrointestinal hemorrhage, Bruising susceptibility, Long eyelashes, Malabsorp... ORPHA:79430
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia ORPHA:90790
Congenital Enterovirus Infection
Respiratory distress, Hepatic failure, Pleural effusion ORPHA:292
Qazi-Markouizos Syndrome
Abdominal distention, Cryptorchidism, Delayed ossification of carpal bones, Chronic constipation ORPHA:3010
Weill-Marchesani Syndrome 2
Broad phalanges of the hand, Short finger, Elbow flexion contracture, Broad ribs, Spinal canal st... OMIM:608328
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:90673
Aicardi-Goutieres Syndrome 7
Pneumonia, Atrophic gastritis, Atopic dermatitis, Hepatitis, Pancytopenia, Chilblains, Skin rash,... OMIM:615846
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Erythema, Clitoral hypertrophy, Severe short stature, Growth delay, He... ORPHA:2556
Leopard Syndrome 1
Low-set ears, Hypospadias, Delayed menarche, Cryptorchidism, Aplasia of the ovary, Limited elbow ... OMIM:151100
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Platyspondyly, Rhizomelia, Disproportionate short-limb short stature, Congenital hypothyroidism, ... OMIM:271510
Primary Sjögren Syndrome
Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, L... ORPHA:289390
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Gastroesophageal reflux, Vomiting, He... ORPHA:206436
Meier-Gorlin Syndrome 2
Clitoral hypertrophy, Gastroesophageal reflux, Tracheomalacia, Breast hypoplasia, Intrauterine gr... OMIM:613800
Treacher-Collins Syndrome
Blepharospasm, Small scrotum, Conductive hearing impairment, Rectovaginal fistula, Downslanted pa... ORPHA:861
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis OMIM:150260
Truncus Arteriosus
Pulmonary artery hypoplasia, Abnormal lung lobation, Intrauterine growth retardation, Cyanosis, A... ORPHA:3384
Postinfectious Vasculitis
Pneumonia, Palpable purpura, Anorexia, Cutis marmorata, Orchitis, Arthritis, Vasculitis in the sk... ORPHA:48435
Unilateral Polymicrogyria
Pseudobulbar paralysis, Nasogastric tube feeding, Apnea, Cyanosis, Pulmonary arteriovenous malfor... ORPHA:268943
Apert Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Anomalous tracheal cartilage, Synostosis o... OMIM:101200
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Diarrhea, Nausea, Constipation, Episodic vomiting, Abdominal distentio... ORPHA:100924
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Ptosis, Abdominal distention ORPHA:1876
Neuroblastoma
Elevated circulating catecholamine level, Respiratory distress, Horner syndrome, Abdominal disten... ORPHA:635
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Diarrhea, Poor wound healing, Increased circulating cortisol level, In... ORPHA:99889
Waardenburg Syndrome, Type 1
Supernumerary ribs, Sprengel anomaly, Supernumerary vertebrae OMIM:193500
Proteasome-Associated Autoinflammatory Syndrome 1
Irregular menstruation, Erythema, Recurrent upper respiratory tract infections, Elevated circulat... OMIM:256040
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Feeding difficulties in infancy, Respiratory tract infection, Hearing impai... ORPHA:308552
Alternating Hemiplegia Of Childhood
Diarrhea, Vomiting, Abdominal distention, Oral-pharyngeal dysphagia, Respiratory distress, Thin e... ORPHA:2131
Gm1 Gangliosidosis
Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Infectious encephalitis, Recurrent respir... ORPHA:354
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Narrow internal auditory canal, Low-set, posteriorly rotated ears, Synotia,... ORPHA:990
Dextrocardia
Congenital hip dislocation, Abnormal rib morphology ORPHA:1666
Ramos-Arroyo Syndrome
Severe short stature, Xerostomia, Respiratory distress, Upslanted palpebral fissure, Chronic cons... ORPHA:1051
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Knee flexion contracture, Sensorineural hearing impairment, Simple ear, Epi... OMIM:618733
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Apnea, Cyanosis OMIM:261680
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Increased red blood cell count, Granuloma, Respiratory tract infection, Infectious enc... ORPHA:68
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Pulmonary edema, Dyspnea OMIM:115197
Cerebrocostomandibular Syndrome
Posterior rib gap, Clinodactyly of the 5th finger, Bell-shaped thorax, Kyphosis ORPHA:1393
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Low-set ears, Congenital hip dislocation, Short palpebral fissure, Hearing impairment, Downslante... ORPHA:480880
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Cyanosis, Exertional dyspnea, Dyspnea, Anomalous pulmonary venous return ORPHA:99104
Wilson Disease
Bruising susceptibility, Abnormality of the menstrual cycle, Acute hepatic failure, Joint swellin... ORPHA:905
Chiari Malformation Type Ii
Dysphagia, Cyanosis, Feeding difficulties OMIM:207950
Congenital Disorder Of Deglycosylation 1
Low-set ears, Oral-pharyngeal dysphagia, Respiratory distress, Ptosis, Impaired oropharyngeal swa... OMIM:615273
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Achalasia ORPHA:2400
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Kyphosis, Hearing impairment, Respiratory distress, Lumbar hyperlordosis, Limited ... OMIM:183900
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Scimitar Syndrome
Pulmonary artery hypoplasia, Bronchogenic cyst, Respiratory distress, Pneumothorax, Partial anoma... ORPHA:185
Tetanus
Respiratory distress, Tachypnea, Abdominal pain, Dysphagia, Bowel incontinence ORPHA:3299
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Diarrhea, Vomiting, Respiratory distress, Pleural effusion, Petechiae, Ecchymosis, Pul... ORPHA:340
Osteopathia Striata With Cranial Sclerosis
Thoracolumbar kyphosis, Joint contracture of the hand, Straight clavicles, Broad ribs, Fibular ap... OMIM:300373
Orofaciodigital Syndrome Type 14
Bilateral cryptorchidism, Low-set, posteriorly rotated ears, Telecanthus, Upslanted palpebral fis... ORPHA:434179
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Thyroid carcinoma, Multinodular goiter, Testicul... ORPHA:276399
Hypermobile Ehlers-Danlos Syndrome
Elbow dislocation, Decreased fertility, Nausea and vomiting, Epicanthus, Hip dislocation, Menomet... ORPHA:285
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Hearing impairment OMIM:619580
Fucosidosis
Hearing impairment, Vascular skin abnormality, Hypothyroidism, Anterior beaking of lumbar vertebr... ORPHA:349
Primary Dystonia, Dyt4 Type
Respiratory distress, Dysphagia, Blepharospasm, Kyphoscoliosis ORPHA:98805
Constricting Bands, Congenital
Abnormal rib cage morphology, Hand polydactyly, Scoliosis, Syndactyly OMIM:217100
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Genu valgum, Dysphagia, Cyanosis, Sensorineural hearing impairment ORPHA:488627
Hypothyroidism, Congenital, Nongoitrous, 5
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyr... OMIM:225250
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Broad thumb, Toe syndactyly, Short toe, Finger syndactyly, Camptodact... ORPHA:373
Robin Sequence With Cleft Mandible And Limb Anomalies
Low-set ears, Acetabular dysplasia, Aplasia of the epiglottis, Protruding ear, 4-5 metacarpal syn... OMIM:268305
Leprechaunism
Low-set ears, Clitoral hypertrophy, Long penis, Central hypothyroidism, Abdominal distention, Ove... ORPHA:508
Sotos Syndrome
Pulmonary bleb, Small cell lung carcinoma, Acute lymphoblastic leukemia, Chronic otitis media ORPHA:821
Doors Syndrome
Low-set ears, Gastroesophageal reflux, Atresia of the external auditory canal, Aspiration pneumon... ORPHA:79500
Pfeiffer Syndrome
Coronal craniosynostosis, Downslanted palpebral fissures, Humeroradial synostosis, Elbow ankylosi... OMIM:101600
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, Telangiectasia, Gastrointestinal hemorrhage, H... OMIM:187300
Congenital Alveolar Capillary Dysplasia
Abnormal vertebral morphology, Annular pancreas, Respiratory distress, Absent gallbladder, Trache... ORPHA:210122
Hallermann-Streiff Syndrome
Thin ribs, Abnormal rib cage morphology, Decreased number of sternal ossification centers, Slende... OMIM:234100
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Thin ribs, Congenital hip dislocation, Progressive congenital scoliosis, Platyspondyly, Joint dis... OMIM:225400
Meckel Syndrome, Type 8
Low-set ears, Ambiguous genitalia, Polycystic kidney dysplasia, Abdominal distention OMIM:613885
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de... ORPHA:391487
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Congenital hip dislocation, Total anomalous pulmonary venous return, Block vertebra... OMIM:306955
Ethylmalonic Encephalopathy
Diarrhea, Acrocyanosis, Petechiae ORPHA:51188
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Recurrent bronchitis, Abnormal ... OMIM:208900
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea, Vomiting, Anorexia OMIM:237310
Bickerstaff Brainstem Encephalitis
Pneumonia, Respiratory tract infection ORPHA:79138
Resistance To Thyrotropin-Releasing Hormone Syndrome
Growth delay, Increased circulating prolactin concentration, Decreased circulating T4 concentrati... ORPHA:99832
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Respiratory distress, Death in childhood, Sensorineural hearing impairm... OMIM:220110
Monosomy 9P
Abnormality of the vertebral column, Abnormality of the tarsal bones, Short neck, Abnormal rib mo... ORPHA:261112
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Vomiting, Diarrhea, Feeding difficulties OMIM:251000
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia ORPHA:70
Dermatomyositis
Erythema, Chondrocalcinosis, Shawl sign, V-sign, Acrocyanosis, Lung adenocarcinoma, Diffuse retic... ORPHA:221
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Cyanosis, Exertional dyspnea, Orthopnea, Dyspnea ORPHA:99103
Coffin-Lowry Syndrome
Pectus carinatum, Bifid sternum, Kyphosis, Tapered finger, Lumbar kyphosis, Drumstick terminal ph... OMIM:303600
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Platyspondyly, Enlargement of the ankles, Recurrent pneumonia, Poor suck, Abnormal joint morpholo... ORPHA:99646
Congenital Pulmonary Valvar Stenosis
Laryngeal stenosis ORPHA:3189
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urinary bladder inflammation, Int... ORPHA:449395
Inhalational Anthrax
Respiratory distress, Abnormal sweat gland morphology, Vomiting, Dyspnea ORPHA:247257
Early Infantile Epileptic Encephalopathy
Precocious puberty, Micropenis ORPHA:1934
Cholera
Aspiration pneumonia ORPHA:173
Kindler Epidermolysis Bullosa
Erythema, Inflammation of the large intestine, Camptodactyly of finger, Esophagitis, Laryngeal st... ORPHA:2908
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Cyanosis, Knee flexion contracture, Ptosis, Meconium ileus, Feeding difficulties OMIM:617239
Gitelman Syndrome
Type I diabetes mellitus, Chondrocalcinosis, Graves disease, Diarrhea, Respiratory distress, Type... ORPHA:358
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst ORPHA:454840
Orofaciodigital Syndrome Xiv
Low-set ears, Telecanthus, Upslanted palpebral fissure, Cryptorchidism, Aplasia of the epiglottis... OMIM:615948
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Hypospadias, Growth delay OMIM:619272
Acrofacial Dysostosis 1, Nager Type
Low-set ears, Sparse lower eyelashes, Conductive hearing impairment, Atresia of the external audi... OMIM:154400
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyroid hyperplasia, Goiter, Hy... ORPHA:424
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, Apnea, Cyanosis, Ankle clonus, Feeding difficulties, Poor suck OMIM:620423
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Low-set ears, Subglottic stenosis, Short stature, Partial anomalous pulmonary venous return, Post... OMIM:619657
Alpha-Mannosidosis, Infantile Form
Platyspondyly, Pectus carinatum, Talipes valgus, Genu valgum, Short neck, Pectus excavatum, Bilat... ORPHA:309282
Malignant Peritoneal Mesothelioma
Abdominal pain, Peritonitis, Ileus, Abdominal distention ORPHA:168811
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Diarrhea, Vomiting, Growth delay, Respiratory distress, Acute hepatic failure, R... OMIM:256810
Double Outlet Left Ventricle
Cyanosis, Pulmonary artery stenosis, Tachypnea, Cryptorchidism ORPHA:3427
Congenital Laryngeal Web
Respiratory distress, Short stature ORPHA:2374
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic failure, Cyanosis, Sudden episodic apnea ORPHA:159
Pmm2-Cdg
Platyspondyly, Vomiting, Elevated circulating thyroid-stimulating hormone concentration, Increase... ORPHA:79318
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyroid hyperplasia, Goiter, Hy... ORPHA:99819
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Reduced natural killer cell count, Psoriasiform dermatitis, Decreased proportion of CD4-positive ... ORPHA:221139
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased circulating T4 concentratio... OMIM:609152
Triosephosphate Isomerase Deficiency
Cholelithiasis, Respiratory distress, Death in infancy, Death in adolescence, Prolonged neonatal ... OMIM:615512
Combined Immunodeficiency-Enteropathy Spectrum
Type I diabetes mellitus, Congenital pulmonary airway malformation, Intrauterine growth retardati... ORPHA:436252
Hereditary Angioedema Type 1
Diarrhea, Dermatographic urticaria, Vomiting, Respiratory distress, Abdominal pain, Dyspnea, Naus... ORPHA:100050
Isolated Right Ventricular Hypoplasia
Dyspnea, Hypoxemia, Cyanosis ORPHA:439
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Gastroesophageal reflux, Feeding difficulties, Poor suck OMIM:615595
Chylomicron Retention Disease
Diarrhea, Vomiting, Growth delay, Abdominal distention, Steatorrhea, Fat malabsorption ORPHA:71
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Abnormal lung lobation, Low-set, posteriorly rotated ears, Cryptorchidism, Ambiguous... ORPHA:2166
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Sparse eyebrow, Respiratory distress, Sparse eyelashes, Fragile skin, Abnormal pulmonar... OMIM:614748
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Premature osteoarthritis, Abnormal hip joint morphology, Genu... ORPHA:93311
Stüve-Wiedemann Syndrome
Camptodactyly of finger, Respiratory distress, Elbow flexion contracture, Intrauterine growth ret... ORPHA:3206
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Decreased circulating free T4 concentration, Short stature, Thyroid hypop... OMIM:301035
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Malabsorption, Arthritis, Abdominal distention, Steatorrhea, Chroni... ORPHA:92050
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdominal distention ORPHA:35710
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Abnormal rib morphology, Ava... ORPHA:581
Fetal Akinesia Deformation Sequence 1
Thin ribs, Slender long bone, Thoracic hypoplasia, Camptodactyly of finger, Hip contracture, Wris... OMIM:208150
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C... OMIM:616749
Schimke Immuno-Osseous Dysplasia
Platyspondyly, Shallow acetabular fossae, Abnormality of thyroid physiology, Lumbar hyperlordosis... ORPHA:1830
Charge Syndrome
Low-set ears, Postnatal growth retardation, Cryptorchidism, Sensorineural hearing impairment, Rad... OMIM:214800
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Pancreatic hypoplasia,... ORPHA:2255
Liver Failure, Infantile, Transient
Vomiting, Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal dis... OMIM:613070
Diamond-Blackfan Anemia 10
Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Hearing impa... OMIM:613309
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Hepatic failure, Decreased liver function, Generalized abnormality of skin ORPHA:367
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Decre... ORPHA:95494
Classical Ehlers-Danlos Syndrome
Poor wound healing, Chronic constipation, Epicanthus, Fragile skin, Patellar dislocation, Disloca... ORPHA:287
Plague
Inflammation of the large intestine, Diarrhea, Vomiting, Hearing impairment, Respiratory distress... ORPHA:707
Nijmegen Breakage Syndrome
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Autoimmune hemolytic anemia, B... OMIM:251260
Frontometaphyseal Dysplasia
Joint contracture of the hand, Hearing impairment, Limited elbow movement, Sensorineural hearing ... ORPHA:1826
Neurooculorenal Syndrome
Ectopic posterior pituitary, Highly arched eyebrow, Central hypothyroidism, Decreased circulating... OMIM:620305
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Diarrhea, Abdominal distention ORPHA:103910
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Gastroesophageal reflux, Prominent antihelix, Conductive hearing impairment, Nasogastric tube fee... ORPHA:466943
Rodrigues Blindness
Protruding ear, Nasal flaring, Ectodermal dysplasia, Short stature OMIM:268320
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Splenomegaly, Thrombocytopenia, Aspiration pneumonia OMIM:301072
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse eyebrow, Absent nipple, Periorbital wrinkles, Respiratory distress, Sparse eyelashes, Abse... OMIM:305100
Fryns Syndrome
Thin ribs, Short distal phalanx of finger, Joint contracture of the hand, Short thumb, Prominent ... OMIM:229850
Oromandibular Dystonia
Respiratory distress, Dysphagia, Blepharospasm ORPHA:93958
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hematochezia, Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed ... OMIM:600376
Degcags Syndrome
Low-set ears, Hearing impairment, Oral-pharyngeal dysphagia, Premature graying of hair, Genu valg... OMIM:619488
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Central cyanosis OMIM:620067
Pfeiffer Syndrome Type 2
Respiratory distress, Low-set ears, Tracheomalacia, Atresia of the external auditory canal ORPHA:93259
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea, Feeding dif... ORPHA:2299
Aicardi-Goutières Syndrome
Low-set ears, Cutis marmorata, Eyelid coloboma, Prolonged neonatal jaundice, Hypothyroidism, Ptos... ORPHA:51
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Abnormal metacarpal mor... ORPHA:2907
Eosinophilic Fasciitis
Acrocyanosis, Arthritis ORPHA:3165
Trisomy 18
Deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Abnormal rib morpholo... ORPHA:3380
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Aspiration pneumonia OMIM:619482
Pfeiffer Syndrome Type 3
Respiratory distress, Low-set ears, Tracheomalacia, Hearing impairment ORPHA:93260
Generalized Arterial Calcification Of Infancy
Vomiting, Conductive hearing impairment, Hearing impairment, Stapes ankylosis, Respiratory distre... ORPHA:51608
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low-set ears, Erythema, Recurrent otitis media, Cryptorchidism, Hip contracture, Reduced subcutan... OMIM:619503
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Spontaneous pneumothorax, Bruising susceptibility, Downslanted palpebral fiss... OMIM:619656
Nephrotic Syndrome, Type 1
Hypothyroidism, Growth delay, Gastroesophageal reflux, Abdominal distention OMIM:256300
Leptospirosis
Diarrhea, Respiratory distress, Pulmonary hemorrhage, Pleural effusion, Nausea and vomiting, Conj... ORPHA:509
Limb-Mammary Syndrome
Sparse eyebrow, Absent nipple, Lacrimal duct atresia, Breast aplasia, Absent lacrimal punctum, Ap... ORPHA:69085
Microcephaly 13, Primary, Autosomal Recessive
Short stature, Intrauterine growth retardation, Subglottic stenosis, Macrotia OMIM:616051
Alagille Syndrome 1
Short distal phalanx of finger, Butterfly vertebral arch, Hypoplasia of the ulna, Hemivertebrae, ... OMIM:118450
Hereditary Fructose Intolerance
Diarrhea, Vomiting, Nausea, Chronic hepatic failure, Constipation, Abdominal distention, Abdomina... ORPHA:469
Cranioectodermal Dysplasia 2
Narrow chest, Clinodactyly, Horizontal ribs, Metopic synostosis, Polydactyly, Short ribs, Short n... OMIM:613610
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Congenital hip dislocation OMIM:271225
Anterior Cutaneous Nerve Entrapment Syndrome
Abdominal distention, Recurrent infection of the gastrointestinal tract, Nausea, Anorexia, Abdomi... ORPHA:51890
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media, Thrombocytopenia OMIM:122470
Letterer-Siwe Disease
Abdominal distention, Stomatitis, Pulmonary infiltrates OMIM:246400
Acquired Purpura Fulminans
Hepatic failure, Acrocyanosis, Macular purpura ORPHA:49566
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia, Aspiration pneumonia ORPHA:94093
Niemann-Pick Disease Type C
Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Pulmonary infiltrates, Abnormal lung morp... ORPHA:646
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Low-set ears, Growth delay, Respiratory distress, Intrauterine growth retardation, Jaundice, Stom... ORPHA:79282
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telangiectasia, Conjunctival te... OMIM:610655
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Abnormal epiphysis morphology, Bowing of the long bones, Abnormal rib morphology, C... ORPHA:667
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Cervix cancer, Multiple enchondromatosis, Posteriorly rotated ears, Multinodular goiter OMIM:620189
Liver Disease, Severe Congenital
Diarrhea, Recurrent otitis media, Pulmonary edema, Epicanthus, Abdominal distention, Jaundice, Hy... OMIM:619991
Mycophenolate Mofetil Embryopathy
Bifid thoracic vertebrae, Atresia of the external auditory canal, Hearing impairment, Tracheomala... ORPHA:268249
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Isolated Arrhinia
Respiratory distress, Absent nasal septal cartilage, Eyelid coloboma, Microtia ORPHA:1134
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Biotinidase Deficiency
Hearing impairment, Respiratory distress, Apnea, Sensorineural hearing impairment, Conjunctivitis... ORPHA:79241
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Respiratory distress, Intrauterine growth retardation, Death in infancy, Abdomin... OMIM:617156
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Femur fracture OMIM:612301
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Abdominal distention OMIM:619362
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent aspiration pneumonia, Recurrent respiratory infections ORPHA:397715
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Feeding difficulties in infancy, Vomiting OMIM:251110
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Paroxysmal dyspnea, Poor suck, Respiratory dis... ORPHA:99125
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Cardiogenic Shock
Dyspnea, Cyanosis, Orthopnea, Hypoxemia ORPHA:97292
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Keratoconjunctivitis sicca, Abdominal diste... ORPHA:309031
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Feeding difficulties in infancy, Vomiting OMIM:251100
Mucopolysaccharidosis Type 2, Severe Form
Abnormal vertebral morphology, Camptodactyly of finger, Spinal canal stenosis, Arthritis, Hip dys... ORPHA:217085
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Aortopulmonary window, Exertional dyspnea, Abdominal distention, ... ORPHA:97214
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:991
Chronic Graft Versus Host Disease
Urinary bladder inflammation, Fasciitis, Pancytopenia, Pleural effusion, Pulmonary infiltrates, P... ORPHA:99921
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal vertebral morphology, Camptodactyly of finger, Spinal canal stenosis, Arthritis, Hip dys... ORPHA:217093
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypersplenism, Interstitial pneumonitis, Splenomegaly, Thrombocytopenia, Acute promyelocytic leuk... ORPHA:77293
Visceral Myopathy 1
Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Constipation, Abd... OMIM:155310
Mandibuloacral Dysplasia Progeroid Syndrome
Thin ribs, Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Dysplasia of t... OMIM:619127
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Oculopharyngodistal Myopathy 1
Bilateral ptosis, Respiratory distress, Sensorineural hearing impairment, Ptosis, Dysphagia, Hype... OMIM:164310
Lysosomal Acid Lipase Deficiency
Hepatic failure, Diarrhea, Vomiting, Decreased liver function, Malnutrition, Adrenal calcificatio... ORPHA:275761
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo... OMIM:171400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Sensorineural hearing impairment, Peritonitis, Bronchomalacia, Abdominal distention, Pulmonary hy... OMIM:619351
Townes-Brocks Syndrome
Toe clinodactyly, Abnormal vertebral morphology, Ulnar deviation of finger, Broad thumb, Toe synd... ORPHA:857
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Aspiration pneumonia ORPHA:2020
Mowat-Wilson Syndrome
Vomiting, Cupped ear, Bifid scrotum, Downslanted palpebral fissures, Large earlobe, Recurrent oti... OMIM:235730
Alkaptonuria
Brown pigmentation of the conjunctiva, Intervertebral disk degeneration, Arthropathy, Arthritis, ... OMIM:203500
Malakoplakia
Diarrhea, Abnormality of the menstrual cycle, Orchitis, Abdominal pain, Prostate neoplasm ORPHA:556
Interstitial Cystitis
Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormal vagina morph... ORPHA:37202
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia ORPHA:1465
Cleidocranial Dysplasia 1
Kyphosis, Hearing impairment, Persistent open anterior fontanelle, Respiratory distress, Wormian ... OMIM:119600
Biliary, Renal, Neurologic, And Skeletal Syndrome
Low-set ears, Gastroesophageal reflux, Pulmonary artery dilatation, Hearing impairment, Knee disl... OMIM:619534
Pachyonychia Congenita
Respiratory distress, Feeding difficulties ORPHA:2309
Diarrhea 1, Secretory Chloride, Congenital
Secretory diarrhea, Hyperaldosteronism, Abdominal distention, Hyperactive renin-angiotensin syste... OMIM:214700
Marshall-Smith Syndrome
Recurrent aspiration pneumonia, Recurrent upper respiratory tract infections, Aspiration pneumonia OMIM:602535
Colchicine Poisoning
Respiratory distress, Nausea, Vomiting, Diarrhea ORPHA:31824
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Abdominal distention OMIM:618528
Mitochondrial Dna-Associated Leigh Syndrome
Hepatic failure, Apnea, Sensorineural hearing impairment, Episodic respiratory distress, Episodic... ORPHA:255210
Mirizzi Syndrome
Cholelithiasis, Vomiting, Abdominal distention, Abdominal colic, Anorexia, Nausea, Abdominal pain... ORPHA:521219
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Congenital hypothyroidism, Bilateral sensorineural hearing impairment, Thyroid hypoplasia, Macrot... ORPHA:521445
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Small scrotum, Imperforate hymen... OMIM:181450
Charge Syndrome
Bifid femur, Abnormal tibia morphology, Polydactyly, Brachydactyly, Hemivertebrae, Abnormal rib m... ORPHA:138
Hereditary Spherocytosis
Cholelithiasis, Gout, Abdominal pain, Abdominal distention, Jaundice, Growth delay ORPHA:822
African Trypanosomiasis
Diarrhea, Vomiting, Abnormality of the menstrual cycle, Abnormality of circulating cortisol level... ORPHA:3385
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Familial Visceral Myopathy
Low-set, posteriorly rotated ears, Hyperparathyroidism, Abdominal distention, Camptodactyly of fi... ORPHA:2604
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargem... ORPHA:79078
Criss-Cross Heart
Cyanosis, Feeding difficulties ORPHA:1461
Junctional Epidermolysis Bullosa With Pyloric Atresia
Pterygium, Nausea and vomiting, Abdominal distention, Ectropion ORPHA:79403
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Low-set ears, Rectovaginal fistula, Secretory diarrhea, Abdominal distention OMIM:270420
Fanconi-Bickel Syndrome
Postnatal growth retardation, Malabsorption, Poor appetite, Abdominal distention OMIM:227810
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Restrictive Dermopathy
Thin ribs, Camptodactyly of finger, Increased anterioposterior diameter of thorax, Aplasia/Hypopl... ORPHA:1662
Kasabach-Merritt Phenomenon
Hypopnea, Respiratory distress, Petechiae, Abdominal distention, Abdominal pain, Purpura ORPHA:2330
Fanconi-Bickel Syndrome
Hepatic failure, Diabetes mellitus, Abdominal distention, Growth delay ORPHA:2088
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Disproportionate short-limb short stature, Uterus didelphys, Absent or minimally ossified vertebr... ORPHA:93271
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis OMIM:212093
Acute Intermittent Porphyria
Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Constipation, Abdominal distention,... ORPHA:79276
Carney Complex, Type 1
Pituitary adenoma, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Elevated ... OMIM:160980
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Blepharitis ORPHA:280633
Primary Biliary Cholangitis
Hepatic failure, Dermatographic urticaria, Xanthelasma, Abnormality of the thyroid gland, Gastroi... ORPHA:186
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Abnormality of... ORPHA:733
Pancreatoblastoma
Abdominal pain, Vomiting, Diarrhea, Abdominal distention ORPHA:677
Fraser Syndrome 2
Low-set ears, Atresia of the external auditory canal, Cryptophthalmos, Hypoplasia of the thymus, ... OMIM:617666
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Recurrent respiratory infections, Otitis media ORPHA:353281
Castleman Disease
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abdominal distention, Dyspnea, Jaundice ORPHA:160
Microvillus Inclusion Disease
Diarrhea, Abdominal distention ORPHA:2290
Wiedemann-Rautenstrauch Syndrome
Thin ribs, Hypoplastic ilia, Narrow chest, Clinodactyly, Slender long bone, Short humerus, Long t... OMIM:264090
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Subglottic stenosis, Feeding difficulties OMIM:614501
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Anorexia, Intermittent jaundice, Episodic abdominal pain, Abdominal dist... ORPHA:100086
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Hypoperistalsis, Nausea and vomiting, Death in infancy, Abdominal distention ORPHA:2241
Phace Association
Congenital hypothyroidism, Horner syndrome, Lingual thyroid OMIM:606519
Cardiac-Urogenital Syndrome
Tracheomalacia, Bifid scrotum, Scimitar anomaly, Cryptorchidism, Aplasia of the uterus, Ambiguous... OMIM:618280
Phace Syndrome
Abnormality of the orbital region, Ptosis, Hypothyroidism, Ectopic thyroid ORPHA:42775
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Multinodular goiter OMIM:618373
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Anemia, Tooth abscess, Septic arthritis, Recurrent aspiration ... ORPHA:642
Currarino Syndrome
Hemisacrum, Septate vagina, Bifid sacrum, Chronic constipation, Abdominal distention, Gastrointes... OMIM:176450
Semilobar Holoprosencephaly
Aspiration pneumonia ORPHA:220386
Alobar Holoprosencephaly
Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia ORPHA:93924
Colonic Atresia
Abdominal distention ORPHA:1198
Wilson Disease
Hepatic failure, Chondrocalcinosis, Vomiting, Acute hepatic failure, Osteoarthritis, Abdominal di... OMIM:277900
Loeys-Dietz Syndrome 3
Hip osteoarthritis, Spontaneous pneumothorax, Bruising susceptibility, Cystocele, Osteochondritis... OMIM:613795
Fontaine Progeroid Syndrome
Recurrent aspiration pneumonia, Pneumothorax, Pulmonary hypoplasia OMIM:612289
Cowden Syndrome 7
Hashimoto thyroiditis, Ductal carcinoma in situ, Papillary thyroid carcinoma, Goiter OMIM:616858
Metachromatic Leukodystrophy, Late Infantile Form
Feeding difficulties in infancy, Abdominal distention ORPHA:309256
Cirrhosis, Familial
Fulminant hepatitis, Abdominal distention OMIM:215600
Epidermolysis Bullosa Simplex With Pyloric Atresia
Vomiting, Abdominal distention, Fragile skin, Skin fragility with non-scarring blistering, Microtia ORPHA:158684
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Lacrimal duct atresia OMIM:300952
Metachromatic Leukodystrophy, Adult Form
Bilateral sensorineural hearing impairment, Neoplasm of the gallbladder, Bowel incontinence, Abdo... ORPHA:309271
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis ORPHA:216694
Osteopetrosis With Renal Tubular Acidosis
Prominent floating ribs, Pectus excavatum ORPHA:2785
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Recurrent respiratory infections, Otitis media ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Recurrent respiratory infections, Otitis media ORPHA:353277
Metachromatic Leukodystrophy, Juvenile Form
Abdominal distention ORPHA:309263
Glomuvenous Malformation
Abnormal tracheal morphology, Generalized abnormality of skin ORPHA:83454
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Aneurysm-Osteoarthritis Syndrome
Bruising susceptibility, Camptodactyly of finger, Osteochondritis dissecans, Intervertebral disk ... ORPHA:284984
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis ORPHA:416
Yunis-Varon Syndrome
Aspiration pneumonia OMIM:216340
Atresia Of Urethra
Abdominal distention ORPHA:105
Multicystic Dysplastic Kidney
Multicystic kidney dysplasia, Cryptorchidism, Abdominal distention ORPHA:1851

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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