Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
NK2 homeobox 1
Synonyms:
T/EBP,  Ttf-1,  thyroid transcription factor-1,  tinman,  Titf1,  thyroid-specific enhancer-binding protein

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nkx2-1 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.

The table below shows human diseases associated to Nkx2-1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter OMIM:188550
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Gonadotropin deficiency, Oxygen desaturation on exertion, Compensated hypothyroidism, Crackles, W... OMIM:610978
Brain-Lung-Thyroid Syndrome
Pulmonary arterial hypertension, Thyroid hemiagenesis, Abnormal pulmonary interstitial morphology... ORPHA:209905
Athyreosis
Hypothyroidism, Thyroid agenesis ORPHA:95713
Chorea, Benign Hereditary
Chorea OMIM:118700
Benign Hereditary Chorea
ORPHA:1429

The table below shows human diseases predicted to be associated to Nkx2-1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... OMIM:275200
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter OMIM:188550
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Thyroid Dyshormonogenesis 3
Goiter, Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma OMIM:274700
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Decreased circulating T... OMIM:274500
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Isolated Growth Hormone Deficiency, Type Iv
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Decreased response t... OMIM:618157
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T4 concentration, Inc... OMIM:188570
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema OMIM:130700
Thyroid Cancer, Nonmedullary, 4
Papillary thyroid carcinoma, Goiter, Ovarian neoplasm OMIM:616534
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Decreased circulating free T4 concentration, Elevated circulating thyroid-stimula... OMIM:225250
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Neonatal death, Pulmonary hypoplasia OMIM:615228
Thyroid Hormone Metabolism, Abnormal, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Increased circula... OMIM:609698
Blepharochalasis And Double Lip
Goiter OMIM:109900
Pendred Syndrome
Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274600
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Recurrent respiratory infections, Death in childhood, Respiratory failure OMIM:253300
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Tracheomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Anaplastic Thyroid Carcinoma
Nodular goiter, Laryngotracheal stenosis, Anaplastic thyroid carcinoma, Respiratory distress, Tra... ORPHA:142
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Diabetes... OMIM:614963
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... OMIM:619773
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Gonadotropi... ORPHA:231720
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Decreased response t... OMIM:173100
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Larynx Atresia
Respiratory insufficiency, Recurrent respiratory infections ORPHA:1202
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... ORPHA:99832
Pituitary Hormone Deficiency, Combined, 3
Anterior hypopituitarism, Anterior pituitary hypoplasia, Decreased response to growth hormone sti... OMIM:221750
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:300123
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Bronchopulmonary Dysplasia
Central apnea, Hyperoxemia, Pulmonary sequestration, Tracheobronchomalacia, Abnormal respiratory ... ORPHA:70589
Glaucoma-Sleep Apnea Syndrome
Respiratory insufficiency, Sleep apnea ORPHA:2085
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Respiratory distress, Recurrent upper respiratory tract in... OMIM:263000
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Desquamative interstiti... OMIM:265120
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... OMIM:610921
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal death, Pulmonary hypoplasia, Neonatal respiratory distress OMIM:619003
Ciliary Dyskinesia, Primary, 21
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... OMIM:615294
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Apnea, Respiratory failure, Death in infancy OMIM:613869
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... OMIM:615872
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pleura morphology, Abnormal eosinophil morphology, Restrictiv... ORPHA:724
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in childhood, Pulmonary hypoplasia, Death in infancy OMIM:614096
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Respiratory failure, Exertional dyspnea, Late inspira... ORPHA:2302
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating hormone le... OMIM:613239
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... OMIM:145650
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... ORPHA:60033
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... ORPHA:79127
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Reduced circulating prolactin concentration, Inappropriately normal thyroid-stimu... OMIM:300888
Ciliary Dyskinesia, Primary, 5
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:608647
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:3346
Pallister-Hall-Like Syndrome
Death in infancy, Anterior hypopituitarism, Pulmonary hypoplasia, Microglossia, Cleft palate, Hyp... OMIM:241800
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted... ORPHA:90117
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Asthma, Abnormal eosi... ORPHA:1164
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Central apnea, Respiratory failure, Death in infancy OMIM:611722
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Neonatal death, Bilateral lung agenesis OMIM:601612
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy... OMIM:267450
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma, Goiter ORPHA:319487
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Desquamative interstitial pneumonitis, Bronchiectasis, Decreased DLCO,... OMIM:610913
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Type II diabetes mellitus, Increa... OMIM:274300
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Abnormal radioactive iodine uptak... ORPHA:226316
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Congenital Hypothyroidism
Hypotension, Hypothyroidism, Hypogonadism, Anterior hypopituitarism, Macroglossia, Hypertension, ... ORPHA:442
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in adolescence OMIM:300717
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test OMIM:618160
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent pneumonia, Cough, Recurrent low... OMIM:616726
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory failure, Pneu... ORPHA:70587
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:95494
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Chronic sinusitis, Atelectasis OMIM:300455
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Fanconi Anemia, Complementation Group B
Hypogonadism, Esophageal atresia, Death in infancy, Abnormal lung lobation, Tracheoesophageal fis... OMIM:300514
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Dyspnea, Cough, Panacinar emph... OMIM:613490
Hypothyroidism Due To Tsh Receptor Mutations
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:90673
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Graves Disease, Susceptibility To, 1
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves disease, Incre... OMIM:275000
Septooptic Dysplasia
Diabetes insipidus, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulati... OMIM:182230
Septo-Optic Dysplasia Spectrum
Diabetes insipidus, Hypohidrosis, Anterior pituitary hypoplasia, Esophageal atresia, Maternal dia... ORPHA:3157
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency, Pulmonary fibrosis, Recurrent respiratory infections ORPHA:2111
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Aspiration pneumonia, Neonatal respiratory distress OMIM:619057
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Papillary thyroid carcinoma, Goiter ORPHA:97290
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Diabetes insipidus, Death in infancy, Ectopic posterior pituitary, Delayed pubert... ORPHA:95496
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:616867
Pulmonary Hemosiderosis
Respiratory insufficiency, Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage OMIM:178550
Thyroid Lymphoma
Hypothyroidism, Hyperthyroidism, Respiratory distress, Hashimoto thyroiditis, Upper airway obstru... ORPHA:97285
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:615067
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Neonatal respiratory distress... OMIM:618781
Vacterl/Vater Association
Anorectal anomaly, Ambiguous genitalia, Bifid scrotum, Aplasia/Hypoplasia of the lungs, Hypoplasi... ORPHA:887
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Infantile Myofibromatosis
Neoplasm of the pancreas, Tracheoesophageal fistula, Abnormal intestine morphology, Intestinal ob... ORPHA:2591
Pneumocystosis
Respiratory insufficiency, Exertional dyspnea, Interstitial pneumonitis, Hypoxemia, Pleural effus... ORPHA:723
Hereditary Mucoepithelial Dysplasia
Anorectal anomaly, Tracheoesophageal fistula, Pulmonary fibrosis, Furrowed tongue, Recurrent resp... ORPHA:1839
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration OMIM:618328
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Encephalopathy Due To Prosaposin Deficiency
Respiratory insufficiency, Recurrent respiratory infections, Death in infancy ORPHA:139406
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing, Peribronchovascular i... ORPHA:79126
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Maternal Uniparental Disomy Of Chromosome 2
Hypothyroidism, Decreased response to growth hormone stimulation test, Premature ovarian insuffic... ORPHA:96179
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Ectopic posterior pituitary, Decreased serum insulin-like growth factor 1, Anterior pituitary hyp... ORPHA:67045
Acces Syndrome
Tracheoesophageal fistula, Recurrent respiratory infections, Supernumerary nipple OMIM:619959
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, R... ORPHA:60032
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Recurrent upper respir... ORPHA:922
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism OMIM:603373
Craniopharyngioma
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Cerebral i... ORPHA:54595
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Bronchiectasis, Chronic rhinitis, Rhinorrhea, Wheezing, Goiter OMIM:617577
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the ga... ORPHA:2255
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:616081
Primary Pulmonary Hypoplasia
Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Pulmonary hypoplasia, Apnea, Restrictive ... ORPHA:2257
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Hypothyroidism, Anterior pituitary hypoplasia, Decreased circulating free T4 concentration, Reduc... OMIM:613038
Congenital Tracheomalacia
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... ORPHA:95430
Permanent Congenital Hypothyroidism
Hypothyroidism, Thyroid dysgenesis, Goiter ORPHA:226292
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Exertional dyspnea, Dyspnea, ... OMIM:614370
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... OMIM:228300
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Death in infancy, Death in ad... OMIM:618042
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
Immunodeficiency 54
Respiratory insufficiency, Adrenocorticotropic hormone excess, Adrenal insufficiency, Respiratory... OMIM:609981
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Central apnea... ORPHA:98754
Esophageal Atresia
Pulmonary hypoplasia, Dysphagia, Cleft palate, Bronchitis, Respiratory distress, Chronic pulmonar... ORPHA:1199
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Recurrent bronchitis, Nasal polyposis, Chronic sinusitis, Emphysema, Bronchiolitis OMIM:604571
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Pneumothorax, Emphysema ORPHA:122
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Esophageal atresia, Pulmonary hypoplasia, Anal atresia, Tracheoesophageal fistu... OMIM:314390
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
Atelosteogenesis, Type Ii
Respiratory insufficiency, Pulmonary hypoplasia, Stillbirth, Death in infancy OMIM:256050
Bangstad Syndrome
Primary gonadal insufficiency, Goiter, Insulin-resistant diabetes mellitus OMIM:210740
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal respiratory system phys... ORPHA:266
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distress, Diffuse alveolar hem... ORPHA:178320
Culler-Jones Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Hypogonadism, Hypopituitarism, Ectopic posteri... OMIM:615849
Ciliary Dyskinesia, Primary, 42
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Nasal polyposis, Recurre... OMIM:618695
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Holoprosencephaly 9
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Panhypopitu... OMIM:610829
Autoimmune Polyendocrinopathy Type 3
Thymoma, Autoimmune hypoparathyroidism, Abnormal pulmonary interstitial morphology, Atrophic gast... ORPHA:227982
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Central apnea... ORPHA:98793
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Autoimmune Polyendocrinopathy Type 4
Thymoma, Abnormal pulmonary interstitial morphology, Atrophic gastritis, Anterior pituitary dysge... ORPHA:227990
Renal Tubular Dysgenesis
Respiratory insufficiency, Pulmonary hypoplasia OMIM:267430
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Decreased thyroid-stimulati... ORPHA:95715
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Central apnea... ORPHA:177904
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Respiratory distress OMIM:616733
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... ORPHA:1834
Ciliary Dyskinesia, Primary, 23
Chronic bronchitis, Bronchiectasis, Productive cough, Respiratory insufficiency due to defective ... OMIM:615451
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Central apnea... ORPHA:177901
Rhombencephalosynapsis
Esophageal atresia, Aganglionic megacolon, Anal atresia, Tracheoesophageal fistula, Abnormality o... ORPHA:59315
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Abnormal centra... OMIM:612649
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia, Stillbirth OMIM:617468
Methimazole Embryofetopathy
Hypothyroidism, Esophageal atresia, Tracheoesophageal fistula, Hypospadias, Abnormality of the th... ORPHA:1923
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... OMIM:218700
Ciliary Dyskinesia, Primary, 28
Rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insuffici... OMIM:615505
Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Increased circulating T4 concentration, Thyroid hyperplasia, Increased circulati... OMIM:609152
Ane Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re... ORPHA:157954
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Central apnea... ORPHA:398073
Czeizel-Losonci Syndrome
Tracheoesophageal fistula, Hypoplastic nipples, High palate, Pulmonary hypoplasia ORPHA:2437
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreas... ORPHA:289548
Laryngeal Abductor Paralysis
Respiratory insufficiency ORPHA:2808
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Respiratory insufficiency, Recurrent respiratory infections ORPHA:2432
Pendred Syndrome
Goiter, Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma ORPHA:705
Tracheobronchopathia Osteochondroplastica
Bronchitis, Respiratory insufficiency, Recurrent respiratory infections, Productive cough, Exerti... ORPHA:3348
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr... ORPHA:52901
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreas... ORPHA:168558
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Congenital Myopathy 14
Apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in infancy OMIM:618414
Pituitary Hormone Deficiency, Combined, 6
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... OMIM:613986
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:95716
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Testicular atrophy, Pulmonary hypoplasia OMIM:601163
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... OMIM:612387
Congenital Myopathy 1B, Autosomal Recessive
Respiratory insufficiency, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Achondrogenesis Type 2
Cardiorespiratory arrest, Pulmonary hypoplasia ORPHA:93296
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Nonp... ORPHA:36238
Chronic Beryllium Disease
Respiratory insufficiency, Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system... ORPHA:133
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Bicornuate uterus, Abnormal lung lobation, Pulmona... ORPHA:958
Idiopathic Pulmonary Hemosiderosis
Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Reticular pattern on pulmonary HR... ORPHA:99931
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia OMIM:602088
Maffucci Syndrome
Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm of the adrenal cortex, Pituitary... ORPHA:163634
Ciliary Dyskinesia, Primary, 27
Rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insuffici... OMIM:615504
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency, Chronic bronchitis, Recurrent respiratory infections, Bronchiectasis, ... OMIM:616037
Ciliary Dyskinesia, Primary, 36, X-Linked
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Cough, Neonatal respiratory di... OMIM:300991
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
High palate, Supernumerary nipple, Micropenis, Cryptorchidism, Interhypothalamic Adhesion, Tricus... OMIM:618929
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... ORPHA:254875
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Recurrent aspiration pneumonia, Respiratory insufficiency due to muscle weak... ORPHA:2590
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h... ORPHA:90674
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Heparin-Induced Thrombocytopenia
Pulmonary embolism, Increased serum serotonin, Myocardial infarction, Cerebral ischemia ORPHA:3325
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Gonadotropin deficiency, Oxygen desaturation on exertion, Compensated hypothyroidism, Crackles, W... OMIM:610978
Tonne-Kalscheuer Syndrome
Decreased testicular size, Velopharyngeal insufficiency, Pulmonary hypoplasia, Hypospadias, Crypt... OMIM:300978
Igg4-Related Thyroid Disease
Hypothyroidism, Nodular goiter, Thyroiditis, Thyrotoxicosis with diffuse goiter, Graves disease, ... ORPHA:64744
Vacterl With Hydrocephalus
Abnormal fallopian tube morphology, Esophageal atresia, Anal atresia, Pulmonary hypoplasia, Trach... ORPHA:3412
Primary Ciliary Dyskinesia
Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Peribronchova... ORPHA:244
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Pulmonary hypoplasia, Stillbirth OMIM:236500
Ciliary Dyskinesia, Primary, 3
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress,... OMIM:608644
Scedosporiosis
Bronchitis, Pleural empyema, Pleuritis, Abnormal respiratory system physiology, Sinusitis, Cough,... ORPHA:449280
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Neonatal death, Respiratory insufficiency due to muscle weakness, Cryptorchi... OMIM:611890
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxicosis with diff... ORPHA:99819
Wolfram-Like Syndrome
Primary gonadal insufficiency, Hypothyroidism, Respiratory insufficiency, Male hypogonadism, Diab... ORPHA:411590
Serkal Syndrome
Malrotation of small bowel, Sex reversal, Pulmonary hypoplasia, Hypospadias, Abnormality of the a... ORPHA:139466
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion ORPHA:73267
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Morphological abnormality of the ... ORPHA:141127
Dystonia 30
Hypothalamic hamartoma OMIM:619291
Ciliary Dyskinesia, Primary, 26
Rhinitis, Chronic bronchitis, Recurrent respiratory infections, Bronchiectasis, Decreased nasal n... OMIM:615500
Brain-Lung-Thyroid Syndrome
Pulmonary arterial hypertension, Thyroid hemiagenesis, Abnormal pulmonary interstitial morphology... ORPHA:209905
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections ORPHA:1548
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Hypoxemia, Dyspnea, Abnormal blood gas level, Respiratory failure, Pneumonia ORPHA:70578
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary artery dilatation, Pleural effusion, Pulmonary artery stenosis, Cleft palate, Misalignm... OMIM:265380
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... ORPHA:226307
Phosphoribosylaminoimidazole Carboxylase Deficiency
Esophageal atresia, Bilateral cryptorchidism, Tracheoesophageal fistula, Coronal hypospadias, Neo... OMIM:619859
Duplication Of The Pituitary Gland
Volvulus, Cleft palate, Abnormality of the pituitary gland, Abnormal hypothalamus morphology ORPHA:314621
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypogonadotropic hypogonadism, Hypoplasia of penis, Tracheoesophageal fistula ORPHA:3068
Toxic Epidermal Necrolysis
Sudden cardiac death, Intestinal perforation, Abnormal pleura morphology, Malabsorption, Respirat... ORPHA:537
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Neonatal death, Death in childhood, Death in infancy OMIM:619334
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Pulmonary sequestration, Hypoxemia, Pulmonary hypoplasia ORPHA:2847
Ciliary Dyskinesia, Primary, 15
Chronic bronchitis, Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, N... OMIM:613808
Opitz Gbbb Syndrome
Dysphagia, High palate, Ectopic anus, Recurrent aspiration pneumonia, Shawl scrotum, Ankyloglossi... ORPHA:2745
Dyssegmental Dysplasia, Silverman-Handmaker Type
Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia OMIM:224410
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxicosis with diff... ORPHA:424
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Enlarged pituitary gland, Diabetes insipidus, Pituitary corti... ORPHA:300385
Amoebiasis Due To Free-Living Amoebae
Respiratory tract infection, Abnormal hypothalamus morphology, Sinusitis, Abnormality of the adre... ORPHA:68
Dyskeratosis Congenita
Anorectal anomaly, Hyperhidrosis, Abnormal testis morphology, Malabsorption, Neoplasm of the panc... ORPHA:1775
Boomerang Dysplasia
Aplasia/Hypoplasia of the lungs, Decreased response to growth hormone stimulation test, Cryptorch... ORPHA:1263
Fetal Akinesia Deformation Sequence
Respiratory insufficiency, Pulmonary hypoplasia, Cryptorchidism, Intestinal hypoplasia, Cleft pal... ORPHA:994
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... OMIM:619755
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Pulmonary hypoplasia, Respiratory distress OMIM:617895
Non-Acquired Panhypopituitarism
Hypotension, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:90695
Martinez-Frias Syndrome
Pancreatic hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Annular pancreas, Intestin... OMIM:601346
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Renal Agenesis, Bilateral
Pulmonary hypoplasia, Tracheoesophageal fistula, Abnormal intestine morphology, Cleft palate, Abn... ORPHA:1848
Holoprosencephaly 2
Diabetes insipidus, Absent nasal septal cartilage, Bifid uvula, Submucous cleft hard palate, Medi... OMIM:157170
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Neonatal death, Respiratory failure, Apnea OMIM:610127
Medullary Thyroid Carcinoma
Nodular goiter, Pheochromocytoma, Elevated calcitonin, Medullary thyroid carcinoma, Primary hyper... ORPHA:1332
Ciliary Dyskinesia, Primary, 18
Rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Respiratory insufficiency due to defe... OMIM:614874
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Gastroesophageal reflux, Pulmonary hypoplasia, Pectus excavatum, Intestinal malrotation, Hypospad... OMIM:618316
Cowden Syndrome 7
Hashimoto thyroiditis, Ductal carcinoma in situ, Papillary thyroid carcinoma, Goiter OMIM:616858
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Ciliary Dyskinesia, Primary, 9
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chronic sinusitis, Chronic rhi... OMIM:612444
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Asthma, Hypoxemia, Pleural effusion, Crackles, Nonproductive cough, Restrictiv... ORPHA:2902
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Neonatal death, Decrea... OMIM:146510
Alg3-Cdg
High palate, Abnormal uvula morphology, Abnormality of the gastrointestinal tract, Macroglossia, ... ORPHA:79321
Ciliary Dyskinesia, Primary, 32
Decreased nasal nitric oxide, Bronchiectasis, Absent respiratory ciliary axoneme radial spokes, I... OMIM:616481
Chronic Granulomatous Disease
Malabsorption, Pyloric stenosis, Chronic pulmonary obstruction, Tracheoesophageal fistula, Sinusi... ORPHA:379
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Respiratory distress, Decreased c... ORPHA:226313
Avian Influenza
Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Miscarriage, Pleural effusion, D... ORPHA:454836
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Adrenal gland agenesis, Sex reversal, Pulmonary hypoplasia, Hypospadias,... OMIM:611812
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, A... OMIM:613807
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Hypoplasia of penis, Tracheoesophageal fistula, Hypospadias, Cryptorchidism ORPHA:77298
Thanatophoric Dysplasia
Respiratory insufficiency, Pulmonary hypoplasia ORPHA:2655
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:1046
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Ciliary Dyskinesia, Primary, 24
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Chronic pulmon... OMIM:615481
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Hypoxemia, Respiratory distr... ORPHA:70588
Ciliary Dyskinesia, Primary, 34
Decreased nasal nitric oxide, Bronchiectasis, Recurrent bronchitis, Reduced respiratory ciliary b... OMIM:617091
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Anterior pituitary hypoplasia, Pituitary hypothyroidism OMIM:619983
Matthew-Wood Syndrome
Aplasia/Hypoplasia of the pancreas, Annular pancreas, Pulmonary hypoplasia, Duodenal stenosis, Ab... ORPHA:2470
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Restrictive ventilatory defect, Respiratory distress, Respiratory failure OMIM:614399
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Pulmonary hypoplasia, Hypergonadotropic hypogonadism, Cryptorchidism... ORPHA:250999
Dysplastic Cortical Hyperostosis
Aplasia/Hypoplasia of the lungs ORPHA:2204
Ciliary Dyskinesia, Primary, 25
Chronic bronchitis, Bronchiectasis, Productive cough, Immotile cilia, Recurrent sinusitis, Chroni... OMIM:615482
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy OMIM:184260
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Pulmonary hypoplasia, Stillbirth OMIM:615415
Pituitary Adenoma 1, Multiple Types
Increased circulating prolactin concentration, Pituitary adenoma, Prolactinoma, Increased circula... OMIM:102200
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Respiratory insufficiency, Intestinal atresia, Tracheal stenosis ORPHA:93941
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Death in infancy OMIM:616277
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Neonatal death, Pulmonary hypoplasia OMIM:187600
Penile Agenesis
Anorectal anomaly, Ambiguous genitalia, Absent penis, Bilateral lung agenesis, Urethral fistula, ... ORPHA:49
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Acromelic Frontonasal Dysplasia
Anterior pituitary hypoplasia, Hypopituitarism, Upper airway obstruction, Cryptorchidism, Median ... ORPHA:1827
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Pulmonary arterial hypertension, Volvulus, Aganglionic megacolon, Anal atresi... ORPHA:210122
Mccune-Albright Syndrome
Decreased fertility, Macroorchidism, Increased circulating prolactin concentration, Precocious pu... ORPHA:562
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... ORPHA:264675
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Agnathia-Otocephaly Complex
Tracheomalacia, Pulmonary hypoplasia, Respiratory distress OMIM:202650
Mounier-Kühn Syndrome
Bronchitis, Recurrent bronchopulmonary infections, Tracheal stenosis, Pneumonia, Recurrent respir... ORPHA:3347
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anterior pituita... ORPHA:1435
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguo... ORPHA:90791
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Respiratory failure, Death in infancy OMIM:619386
Ciliary Dyskinesia, Primary, 22
Rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insuffici... OMIM:615444
Lymphatic Malformation 12
Recurrent upper and lower respiratory tract infections, Death in adolescence, Pleural thickening,... OMIM:620014
Deeah Syndrome
Hypohidrosis, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation tes... OMIM:619004
Van Esch-O'Driscoll Syndrome
Esophageal atresia, Bifid uvula, Tracheoesophageal fistula, Pulmonary artery stenosis, Hypogonado... OMIM:301030
Marden-Walker Syndrome
High palate, Pyloric stenosis, Intrauterine growth retardation, Pulmonary hypoplasia, Hypospadias... OMIM:248700
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... ORPHA:140896
Ciliary Dyskinesia, Primary, 12
Decreased nasal nitric oxide, Bronchiectasis, Abnormal central microtubular pair morphology of re... OMIM:612650
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure, Cryptorchidism ORPHA:370968
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Dysphagia OMIM:619083
Carney Complex, Type 1
Thyroid carcinoma, Pituitary adenoma, Pheochromocytoma, Thyroid follicular hyperplasia, Elevated ... OMIM:160980
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Recurrent respiratory infections, Dyspnea, Respiratory distress ORPHA:2759
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... ORPHA:217563
Microgastria-Limb Reduction Defect Syndrome
Gastroesophageal reflux, Esophageal atresia, Perineal fistula, Abnormal lung lobation, Anal atres... ORPHA:2538
Delayed Puberty, Self-Limited
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... OMIM:619613
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe... OMIM:178500
Central Precocious Puberty
Premature thelarche, Isosexual precocious puberty, Increased circulating gonadotropin level, Hypo... ORPHA:759
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cleft palate, Micropenis, Cryptorchidism OMIM:610125
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Pulmonary hypoplasia OMIM:263210
Treacher-Collins Syndrome
Respiratory insufficiency, Hypoplasia of the thymus, High palate, Multiple enchondromatosis, Hypo... ORPHA:861
Niemann-Pick Disease, Type C2
Respiratory insufficiency, Respiratory failure, Death in infancy, Neonatal respiratory distress, ... OMIM:607625
Fanconi Renotubular Syndrome 5
Pulmonary fibrosis, Lung adenocarcinoma, Decreased DLCO, Emphysema OMIM:618913
Pituitary Hormone Deficiency, Combined, 2
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... OMIM:262600
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Abnormality of thalamus morphology, Hypergonadotropic hypogonadism OMIM:613724
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory insufficiency, Respiratory failure, Death in infancy, Neonatal respiratory distress, ... OMIM:245400
Hypophosphatasia
Respiratory insufficiency, Emphysema ORPHA:436
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Schisis Association
Tracheoesophageal fistula, Cleft palate, Anal atresia ORPHA:63862
Atelosteogenesis Type I
Laryngotracheal stenosis, Abnormal pancreatic duct morphology, Pulmonary hypoplasia, Cleft palate... ORPHA:1190
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism, Miscarriage ORPHA:82
Joubert Syndrome 38
Small pituitary gland, Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary,... OMIM:619476
Pulmonary Alveolar Microlithiasis
Bronchitis, Respiratory insufficiency, Respiratory tract infection, Respiratory failure, Pneumoth... ORPHA:60025
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Congenital hypothyroidism, Decreased response to growth hormone stimulation test, Tracheal stenos... OMIM:601427
17Q12 Microduplication Syndrome
Tracheoesophageal fistula, Cleft palate ORPHA:261272
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, High palate... ORPHA:177907
Jung Syndrome
Hypothyroidism, Recurrent respiratory infections, Tracheal stenosis ORPHA:2321
Multiple Endocrine Neoplasia, Type Iv
Hypothyroidism, Parathyroid adenoma, Pancreatic endocrine tumor, Pituitary adenoma, Carcinoid tum... OMIM:610755
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Panhypophysitis
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... ORPHA:95513
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal pleura morphology, Abnormality of the diencephalon, Int... ORPHA:2570
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Jeune Syndrome
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:474
Ciliary Dyskinesia, Primary, 35
Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Nasal polyposis, Chronic sinusiti... OMIM:617092
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h... ORPHA:91354
Isolated Exencephaly
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes ORPHA:563612
Caudal Regression Syndrome
Ambiguous genitalia, Maternal diabetes, Hypertension, Pulmonary hypoplasia, Anal atresia, Cryptor... ORPHA:3027
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Pulmonary hypoplasia, Supernumerary nipple, Pectus excavatum, Cryptorchidism, Cleft ... OMIM:612530
Cutis Laxa, Autosomal Recessive, Type Ic
Gastroesophageal reflux, Hypoplasia of the thymus, Death in infancy, Pyloric stenosis, Pulmonary ... OMIM:613177
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hypo... ORPHA:300373
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs ORPHA:1027
Scimitar Syndrome
Pulmonary arterial hypertension, Pulmonary sequestration, Pneumothorax, Pulmonary hypoplasia, Res... ORPHA:185
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Pulmonary hypoplasia, Respiratory distress OMIM:231680
Autosomal Recessive Multiple Pterygium Syndrome
Morphological abnormality of the gastrointestinal tract, High palate, Hypogonadism, Absence of la... ORPHA:2990
Ciliary Dyskinesia, Primary, 38
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Immotile cilia, Absent ... OMIM:618063
Prune Belly Syndrome
Decreased fertility, Urogenital sinus anomaly, Decreased testicular size, Volvulus, Aplasia/Hypop... ORPHA:2970
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Pulmonary hypoplasia OMIM:616866
Fanconi Anemia
Abnormal testis morphology, Hypertrophic cardiomyopathy, Cleft palate, Aplasia/Hypoplasia of the ... ORPHA:84
Charge Syndrome
Hypothyroidism, Gonadotropin deficiency, Parathyroid hypoplasia, Hypoparathyroidism, Dysphagia, C... OMIM:214800
Non-Functioning Pituitary Adenoma
Hypotension, Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido,... ORPHA:91349
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Hypotension, Impotence, Decreased female libido, Ventricular arrhythmia... ORPHA:91347
Microphthalmia, Syndromic 11
Agenesis of pineal gland OMIM:614402
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Dyssegmental Dysplasia, Silverman-Handmaker Type
Respiratory insufficiency, Pulmonary hypoplasia, Miscarriage, Cryptorchidism, Cleft palate ORPHA:1865
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo... OMIM:265450
Chromosome 14Q11-Q22 Deletion Syndrome
Gastroesophageal reflux, Anterior pituitary hypoplasia, Elevated circulating thyroid-stimulating ... OMIM:613457
Charge Syndrome
Respiratory insufficiency, Gastroesophageal reflux, Bifid scrotum, Anterior hypopituitarism, Labi... ORPHA:138
Hyperekplexia 4
Respiratory failure OMIM:618011
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Abnormality of female external genitalia, Increased circulating ACTH level, Decre... ORPHA:90790
Bronchogenic Cyst
Abnormal pleura morphology, Pneumonia, Dyspnea, Cough, Bronchogenic cyst, Pulmonary cyst, Atelect... ORPHA:2357
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Congenital hypothyroidism, Thyroid hypoplasia ORPHA:521445
Snakebite Envenomation
Epistaxis, Respiratory failure, Hypopituitarism, Respiratory paralysis ORPHA:449285
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Pulmonary hypoplasia, Stillbirth, Respiratory distress OMIM:151210
Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration OMIM:275100
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia ORPHA:3035
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pulmonary hypoplasia, Pleural effusion, Hypertrophic cardiomyopathy, Hypospadias, Intrauterine gr... OMIM:616897
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory tract infection, Respiratory distress, Respiratory failure... ORPHA:308552
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Posterior pituitary hypoplasia, Pulmonary artery stenosis,... ORPHA:75389
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia OMIM:312150
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Bifid scrotum, Pyloric stenosis, Penoscrotal transposition, Anal atresia, Pulmonary ... OMIM:619148
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypothyroidism, Pulmonary embolism, Malabsorption, Abnormal intestine morphology, Intestinal obst... OMIM:226300
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Death in infancy, Congenital alveolar dyspla... OMIM:608978
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Central sleep apnea, Apnea, Respiratory failure ORPHA:168486
Microphthalmia, Syndromic 3
Anterior pituitary hypoplasia, Esophageal atresia, Hypospadias, Cryptorchidism, Hypogonadotropic ... OMIM:206900
Multiple Endocrine Neoplasia, Type Iia
Parathyroid adenoma, Increased circulating cortisol level, Pheochromocytoma, Elevated calcitonin,... OMIM:171400
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Pulmonary v... OMIM:234810
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Genitopatellar Syndrome
Gastroesophageal reflux, Pulmonary hypoplasia, Apnea, Cryptorchidism, Small scrotum, Clitoral hyp... ORPHA:85201
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
48,Xxxy Syndrome
Gastroesophageal reflux, Pulmonary embolism, Hypogonadism, Decreased testicular size, Type II dia... ORPHA:96263
Cowden Syndrome 5
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Go... OMIM:615108
Thymic Neuroendocrine Tumor
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... ORPHA:97289
Teebi Hypertelorism Syndrome 1
Bicornuate uterus, Pulmonary hypoplasia, Hydrocele testis, Shawl scrotum OMIM:145420
Diaphanospondylodysostosis
Respiratory insufficiency, Tracheomalacia, Pulmonary hypoplasia, Respiratory distress OMIM:608022
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress ORPHA:330021
Fryns Syndrome
Gastroesophageal reflux, High palate, Ectopic anus, Bicornuate uterus, Aganglionic megacolon, Ana... ORPHA:2059
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinitis, Recurrent upper respirator... OMIM:618699
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Pulmonary fibrosis, Exertional dyspnea, Atelectasis ORPHA:254361
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Pectus excavatum, Tracheoesophageal fistula, Duo... OMIM:619227
Tetrasomy 5P
Pulmonary arterial hypertension, High palate, Heart murmur, Pulmonary hypoplasia, Respiratory dis... ORPHA:3309
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:253290
Congenital Contractural Arachnodactyly
Tracheoesophageal fistula, Intestinal malrotation, High palate, Duodenal atresia ORPHA:115
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Respiratory insufficiency, Death in infancy, Aplasia/Hypoplasia of the lungs, Abnormal lung lobat... ORPHA:1120
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Pulmonary hypoplasia, Hypertension, Hematemesis, Esophageal varix, Portal hyper... OMIM:263200
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:2725
49,Xxxxy Syndrome
Gastroesophageal reflux, Pulmonary embolism, Hypogonadism, Decreased testicular size, Type II dia... ORPHA:96264
Williams Syndrome
Sudden cardiac death, Hypothyroidism, Peptic ulcer, Precocious puberty, Colonic diverticula, Func... ORPHA:904
Microphthalmia, Syndromic 9
Respiratory insufficiency, Agenesis of pulmonary vessels, Bilateral lung agenesis, Bicornuate ute... OMIM:601186
Primary Pigmented Nodular Adrenocortical Disease
Irregular menstruation, Increased circulating cortisol level, Type II diabetes mellitus, Decrease... ORPHA:189439
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Orthostatic hypotension, Dysphagia ORPHA:2822
Phocomelia, Schinzel Type
Hypoplasia of penis, Anal atresia, Tracheoesophageal fistula, Aplasia of the uterus, Cryptorchidi... ORPHA:2879
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Paroxysmal dyspnea, Abnormal thalamic MRI signal intensity, Stridor ORPHA:444013
Juvenile Neuronal Ceroid Lipofuscinosis
Hyperhidrosis, Aspiration pneumonia, Episodic tachypnea, Apnea, Focal T2 hyperintense thalamic le... ORPHA:79264
Laryngotracheoesophageal Cleft
Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress, Recurrent respiratory infections ORPHA:2004
Fanconi Anemia, Complementation Group D2
Esophageal atresia, Tracheoesophageal fistula, Hypergonadotropic hypogonadism, Cryptorchidism, An... OMIM:227646
Bilateral Perisylvian Polymicrogyria
Gastroesophageal reflux, Aspiration, Pseudobulbar paralysis, Pectus excavatum, Ectopic posterior ... ORPHA:98889
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Macroglossia, Pulmonary hypoplasia, Hypospadias, Protruding tongue, Cryptorchidism, ... OMIM:214100
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Hypoxemia, Pleural effusion, Respiratory failure, Tachypnea ORPHA:542323
Myotubular Myopathy With Abnormal Genital Development
Penile hypospadias, High palate, Death in infancy, Bifid scrotum, Bilateral cryptorchidism, Ambig... OMIM:300219
Joubert Syndrome 21
Apnea, Dyspnea, Pulmonary hypoplasia OMIM:615636
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Hypothyroidism, Thyroid hypoplasia, Cryptorchidism, Thyroid agenesis, Thyroid dysgenesis, Ectopic... ORPHA:3047
Distal Tetrasomy 15Q
High palate, Pulmonary hypoplasia, Hydrocele testis, Abnormal external genitalia, Intrauterine gr... ORPHA:314588
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Lethal Congenital Contracture Syndrome 10
High palate, Hypoplasia of the thymus, Narrow palate, Pulmonary hypoplasia, Macroglossia, Intraut... OMIM:617022
Verloove Vanhorick-Brubakk Syndrome
Aplasia/Hypoplasia of the lungs, Abnormality of the parathyroid gland, Cleft palate, Cryptorchidism ORPHA:3429
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Dyspnea, Hypergonadotropic hypogonadism, Respiratory insufficiency due to mu... ORPHA:352447
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Ambiguous genitalia, Hypertension, Adrenal hyperplasia, Male pseudohermap... OMIM:202110
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Recurrent respiratory infections ORPHA:3226
Cowden Syndrome 6
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Go... OMIM:615109
Short-Rib Thoracic Dysplasia 12
Respiratory insufficiency, Lobulated tongue, Ambiguous genitalia, Neonatal death, Pulmonary hypop... OMIM:269860
Thyroid Ectopia
Hypothyroidism, Ectopic thyroid, Abnormality of the thyroid gland ORPHA:95712
8Q24.3 Microdeletion Syndrome
Gastroesophageal reflux, Abnormal lung lobation, Respiratory distress, Pectus excavatum, Ectopic ... ORPHA:508488
Dyrk1A-Related Intellectual Disability Syndrome
Gastroesophageal reflux, Anterior pituitary hypoplasia, Pyloric stenosis, Intrauterine growth ret... ORPHA:464306
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Neoplasm of the thyroid gland, P... ORPHA:457059
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Morphological abnormality of the gastrointestinal tract, Intestinal perforation, Retinal hemorrha... ORPHA:464321
Poems Syndrome
Pulmonary arterial hypertension, Hypothyroidism, Increased circulating prolactin concentration, H... ORPHA:2905
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Respiratory insufficiency, Lobulated tongue, Ambiguous genitalia, Bifid tongue, Anal atresia, Pul... OMIM:616300
Familial Hyperaldosteronism Type I
Hypertension, Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, ... ORPHA:403
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Abnormal circulating renin, ... ORPHA:404
Diffuse Alveolar Hemorrhage
Hypoxemia, Airway obstruction, Irregular septal thickening on pulmonary HRCT, Restrictive ventila... ORPHA:90060
Lymphoid Interstitial Pneumonia
Respiratory tract infection, Subpleural interstitial thickening, Bronchiectasis, Raynaud phenomen... ORPHA:79128
Proximal Spinal Muscular Atrophy
Respiratory failure, Hypoventilation, Recurrent aspiration pneumonia, Recurrent infections due to... ORPHA:70
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenogenital syndrome, Hypospadias, Hypertension, Adrenal hyperplasia OMIM:201910
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Pulmonary hypoplasia OMIM:608149
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Death in infancy, Respiratory distress, Respiratory failure, Tachypnea OMIM:614299
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Achondroplasia
Respiratory distress, Upper airway obstruction, Pulmonary hypoplasia, Death in infancy OMIM:100800
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia OMIM:201710
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Respiratory insufficiency, Urogenital sinus anomaly, Anal atresia, Intestinal malrotation, Trache... ORPHA:2973
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Asthma, Pulmonary bulla, Decreased eosinophil count, Pleural thickening, Recurren... OMIM:619632
Achondrogenesis
Aplasia/Hypoplasia of the lungs ORPHA:932
Gaucher Disease, Perinatal Lethal
Apnea, Neonatal death, Pulmonary hypoplasia, Respiratory distress OMIM:608013
Microcephaly-Micromelia Syndrome
Neonatal death, Pulmonary hypoplasia OMIM:251230
Meier-Gorlin Syndrome 7
High palate, Clitoral hypertrophy, Urethral stricture, Breast aplasia, Duodenal stenosis, Anal at... OMIM:617063
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary arterial hypertension, ... ORPHA:99050
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Klippel-Trénaunay Syndrome
Respiratory insufficiency, Pulmonary embolism, Abnormality of the menstrual cycle, Abnormality of... ORPHA:90308
Congenital Myopathy 17
Respiratory insufficiency, Respiratory tract infection, Pulmonary hypoplasia OMIM:618975
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Hypothalamic hamartoma, Cryptorchidism OMIM:619908
Meckel Syndrome, Type 6
Absent gallbladder, Pulmonary hypoplasia, Bilobed right lung, Bile duct proliferation, Cleft pala... OMIM:612284
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Ciliary Dyskinesia, Primary, 1
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Nasal polyposis, Chronic sinusitis, Chronic... OMIM:244400
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Pulmonary hypoplasia, Bronchiectasis OMIM:619708
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Bilateral lung agenesis, Decreased testicular size, Rectovagina... ORPHA:2753
Craniosynostosis 4
Ectopic posterior pituitary OMIM:600775
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Pagod Syndrome
Sudden cardiac death, Ambiguous genitalia, Abnormal testis morphology, Death in infancy, Abnormal... ORPHA:991
Feingold Syndrome 1
High palate, Jejunal atresia, Gastrointestinal atresia, Esophageal atresia, Tracheoesophageal fis... OMIM:164280
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Death in infancy, Respiratory failure... OMIM:605711
Thakker-Donnai Syndrome
Tracheoesophageal fistula, Rectovaginal fistula, Anal atresia, Intrauterine growth retardation ORPHA:1780
Hydrolethalus Syndrome 1
Abnormal lung lobation, Tracheal stenosis, Bifid uterus, Hypospadias, Adrenal gland dysgenesis, S... OMIM:236680
Tarp Syndrome
Tongue nodules, Abnormal duodenum morphology, Intrauterine growth retardation, Pulmonary hypoplas... ORPHA:2886
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Exertional dyspnea, Abnormality of thyroid physiology, Asthma, D... ORPHA:563
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Recurrent bronchopulmonary infections, Bronchiectasis, Emphysema OMIM:242700
Postsynaptic Congenital Myasthenic Syndromes
Exertional dyspnea, Restrictive ventilatory defect, Orthopnea, Reduced vital capacity, Respirator... ORPHA:98913
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology ORPHA:397725
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Hyperaldosteronism, Intracranial hemorrhage, Adrenal hyperplasia... ORPHA:369929
Lenz-Majewski Hyperostotic Dwarfism
Anterior pituitary hypoplasia, Anteriorly placed anus, Hypospadias, Microglossia, Cryptorchidism,... OMIM:151050
14Q22Q23 Microdeletion Syndrome
Small scrotum, Diabetes insipidus, Anterior pituitary hypoplasia, Cryptorchidism, Abnormality of ... ORPHA:264200
Ulnar-Mammary Syndrome
Anterior pituitary hypoplasia, Imperforate hymen, Shawl scrotum, Bicornuate uterus, Pyloric steno... OMIM:181450
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Sleep apnea, Respiratory failure, Central hypoventilation OMIM:618233
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure, Pneumonia, Abnormal respiratory system physiology, Recurrent respiratory inf... ORPHA:98905
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... ORPHA:95699
Riddle Syndrome
Bronchitis, Abnormal pulmonary interstitial morphology, Recurrent sinusitis, Chronic sinusitis, R... ORPHA:420741
Multiple Endocrine Neoplasia Type 1
Pituitary thyrotropic cell adenoma, Peptic ulcer, Pituitary corticotropic cell adenoma, Impotence... ORPHA:652
Alstrom Syndrome
Irregular menstruation, Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, D