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Gene: Nkx2-1 MGI:108067

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

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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 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
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Recurrent respiratory infections, Hypoparathyroidism, Thyroid hemiagenesis, H... ORPHA:209905
Chorea, Benign Hereditary
Chorea OMIM:118700
Athyreosis
Thyroid agenesis, Hypothyroidism ORPHA:95713
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
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... OMIM:618157
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm OMIM:616534
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Blepharochalasis And Double Lip
Goiter OMIM:109900
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency OMIM:245650
Anaplastic Thyroid Carcinoma
Respiratory distress, Cough, Dyspnea, Laryngotracheal stenosis, Tracheoesophageal fistula, Upper ... ORPHA:142
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... OMIM:173100
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Pituitary Hormone Deficiency, Combined, 3
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... OMIM:221750
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... OMIM:265120
Larynx Atresia
Recurrent respiratory infections, Respiratory insufficiency ORPHA:1202
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:619003
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood OMIM:614096
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... ORPHA:2302
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... OMIM:608647
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:3346
Pallister-Hall-Like Syndrome
Death in infancy, Microglossia, Cleft palate, Micropenis, Pulmonary hypoplasia, Hypothalamic hama... OMIM:241800
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Abnormal pleura morphology, Respiratory insufficiency, Restrictiv... ORPHA:724
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter ORPHA:319487
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency OMIM:601612
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia OMIM:618160
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia OMIM:615524
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Esophageal... ORPHA:3157
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Septooptic Dysplasia
Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:182230
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... OMIM:613490
Fanconi Anemia, Complementation Group B
Death in infancy, Hypergonadotropic hypogonadism, Esophageal atresia, Abnormal lung lobation, Tra... OMIM:300514
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Papillary thyroid carcinoma, Goiter ORPHA:97290
Pituitary Stalk Interruption Syndrome
Death in infancy, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyroidism... ORPHA:95496
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Infantile Myofibromatosis
Neoplasm of the pancreas, Intestinal obstruction, Tracheoesophageal fistula, Neoplasm of the lung... ORPHA:2591
Thyroid Lymphoma
Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Stridor, Hypothyroidism... ORPHA:97285
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Congenital Myopathy 21 With Early Respiratory Failure
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia OMIM:620326
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... ORPHA:67045
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... OMIM:274300
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue, ... ORPHA:1839
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... ORPHA:90673
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... ORPHA:79126
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Maternal Uniparental Disomy Of Chromosome 2
Neonatal respiratory distress, Premature ovarian insufficiency, Miscarriage, Decreased response t... ORPHA:96179
Vacterl/Vater Association
Bifid scrotum, Hypoplasia of penis, Hypospadias, Tracheal stenosis, Cryptorchidism, Anorectal ano... ORPHA:887
Acces Syndrome
Recurrent respiratory infections, Tracheoesophageal fistula, Supernumerary nipple OMIM:619959
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Neonatal insulin-dependent diabetes mellitus, Intestinal malrotation, Exocr... ORPHA:2255
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Ciliary Dyskinesia, Primary, 37
Goiter, Wheezing, Bronchiectasis, Chronic rhinitis, Hypothyroidism, Rhinorrhea OMIM:617577
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... OMIM:228300
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Asthma, Pneumothorax, Tac... ORPHA:2257
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Gastroesophageal reflux, Cough, Emphysema, Neonatal respir... ORPHA:95430
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency ORPHA:2111
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Myoc... ORPHA:54595
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insufficiency OMIM:178550
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter OMIM:210740
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Immunodeficiency 54
Recurrent respiratory infections, Respiratory insufficiency, Adrenocorticotropic hormone excess, ... OMIM:609981
Esophageal Atresia
Respiratory distress, Bronchitis, Maternal diabetes, Gastrointestinal dysmotility, Anorectal anom... ORPHA:1199
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Culler-Jones Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Hypogonadism, Hypopit... OMIM:615849
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:610829
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Atelosteogenesis, Type Ii
Death in infancy, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency OMIM:256050
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Respiratory insufficiency OMIM:267430
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia OMIM:616733
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Axial Mesodermal Dysplasia Spectrum
Anorectal anomaly, Tracheoesophageal fistula, Aplasia/Hypoplasia of the lungs, Gastroesophageal r... ORPHA:1834
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Hypergonadotropic hypogonadism, Celiac disease, Primary adrenal insufficiency... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Celiac disease... ORPHA:227982
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Pulmonary hypoplasia OMIM:617468
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Rhombencephalosynapsis
Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Abnormality of the uterus, ... ORPHA:59315
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98754
Czeizel-Losonci Syndrome
Tracheoesophageal fistula, Hypoplastic nipples, High palate, Pulmonary hypoplasia ORPHA:2437
Pendred Syndrome
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter ORPHA:705
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Methimazole Embryofetopathy
Hypospadias, Abnormality of the thyroid gland, Esophageal atresia, Tracheoesophageal fistula, Int... ORPHA:1923
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Esophageal atresia, Tracheoesophageal fistula, Pulmonary hypoplasia, Neonatal death, Anal atresia OMIM:314390
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98793
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Death in infancy, Intraalveolar phospholipid accumulation, Resp... OMIM:618042
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177901
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency OMIM:255320
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... ORPHA:289548
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Ple... OMIM:612387
Achondrogenesis Type 2
Pulmonary hypoplasia, Cardiorespiratory arrest ORPHA:93296
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Tricuspid regurgitation, Supernumerary nipple, Cryptorchidism, Interhypothalamic adhesion, High p... OMIM:618929
Maffucci Syndrome
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... ORPHA:163634
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren... ORPHA:168558
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... OMIM:618695
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Testicular atrophy, Pulmonary hypoplasia OMIM:601163
Nephronophthisis 2
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... OMIM:616113
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Acute inf... ORPHA:36238
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Uterus didelphys, Tracheoesophageal fis... ORPHA:958
Vacterl With Hydrocephalus
Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Pulmonary hypoplasia, Abnormal fal... ORPHA:3412
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Idiopathic Pulmonary Hemosiderosis
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Restrictive ve... ORPHA:99931
Tonne-Kalscheuer Syndrome
Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Pulmonary hypoplasia, Dysphagia, Micro... OMIM:300978
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... ORPHA:244
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... OMIM:609152
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... ORPHA:95715
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Heparin-Induced Thrombocytopenia
Myocardial infarction, Cerebral ischemia, Increased serum serotonin, Pulmonary embolism ORPHA:3325
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Interstitial pneumonitis, Recurrent upper respiratory tract infec... OMIM:620296
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... OMIM:615505
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion ORPHA:73267
Central Precocious Puberty In Male
Abnormality of the testis size, Pituitary microadenoma, Hypothalamic hamartoma, Abnormal response... ORPHA:649929
Congenital Tracheal Stenosis
Respiratory distress, Meckel diverticulum, Abnormal bronchus morphology, Abnormal stomach morphol... ORPHA:141127
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... ORPHA:90674
Dystonia 30
Hypothalamic hamartoma OMIM:619291
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections ORPHA:1548
Phosphoribosylaminoimidazole Carboxylase Deficiency
Bilateral cryptorchidism, Coronal hypospadias, Esophageal atresia, Tracheoesophageal fistula, Neo... OMIM:619859
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,... ORPHA:449280
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:424
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema ORPHA:70578
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Volvulus, Abnormal pituitary gland morphology, Cleft palate ORPHA:314621
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Abnormal lung lobation, Neonatal death, Neonatal respiratory distress, Hypospadias, Esophageal at... OMIM:265380
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Tracheoesophageal fistula, Cleft pa... ORPHA:2745
Serkal Syndrome
Abnormal penis morphology, Hypospadias, Malrotation of small bowel, Sex reversal, Abnormality of ... ORPHA:139466
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... ORPHA:562
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Cryptorchidism, Respiratory failure, Neonatal d... OMIM:611890
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... ORPHA:133
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Pericardial And Diaphragmatic Defect
Hypoxemia, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary sequestration ORPHA:2847
Boomerang Dysplasia
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Decreased response to growth hormone stimulation... ORPHA:1263
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency OMIM:224410
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Nasal polyposis, Chronic bronchitis, Absent outer dynein arms, ... OMIM:616037
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Respiratory tract infection, Abnormal hypothalamus morphology, Abnormality ... ORPHA:68
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Respiratory distress, Abnormal ple... ORPHA:537
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Tracheoesophageal fistula ORPHA:3068
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Cryptorchidism, Cleft palate, Respiratory insufficiency, Pulmonary hypopla... ORPHA:994
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Stillbirth, Pulmonary hypoplasia OMIM:236500
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Dyskeratosis Congenita
Neoplasm of the pancreas, Recurrent respiratory infections, Diabetes mellitus, Esophageal stenosi... ORPHA:1775
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Pheochromocytoma, Elevated circulating calcitonin concentration, Nod... ORPHA:1332
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Hypospadias, Intestinal malrotation, Jejuna... OMIM:601346
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter OMIM:616858
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Hypospadias, Intestinal malrotation, Pectus excavatum, Cryptorc... OMIM:618316
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Renal Agenesis, Bilateral
Tracheoesophageal fistula, Cleft palate, Abnormal intestine morphology, Pulmonary hypoplasia, Abn... ORPHA:1848
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... ORPHA:70588
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Pituitary hypothyroidism, Anterior pituitary hypoplasia OMIM:619983
Holoprosencephaly 2
Adrenal hypoplasia, Submucous cleft hard palate, Absent nasal septal cartilage, Bilateral cleft l... OMIM:157170
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Matthew-Wood Syndrome
Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, ... ORPHA:2470
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Hypereosinophilia, Dysp... ORPHA:2902
Chronic Granulomatous Disease
Recurrent respiratory infections, Sinusitis, Malabsorption, Pyloric stenosis, Chronic pulmonary o... ORPHA:379
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Ovotestis, Pulmonary artery stenosis, Cleft palate, Sex reversal, Bilateral lung age... OMIM:611812
Alg3-Cdg
Abnormality of the gastrointestinal tract, Abnormality of the endocrine system, Macroglossia, Car... ORPHA:79321
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Bronch... OMIM:615500
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne... ORPHA:454836
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:1046
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula ORPHA:77298
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs ORPHA:2204
Thanatophoric Dysplasia
Pulmonary hypoplasia, Respiratory insufficiency ORPHA:2655
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Pulmon... ORPHA:250999
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Cough, Wheezing... OMIM:613808
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Tracheoesophageal fistula, Respiratory insufficiency, Intestinal atresia ORPHA:93941
Acromelic Frontonasal Dysplasia
Anterior pituitary hypoplasia, Cryptorchidism, Upper airway obstruction, Hypopituitarism, Median ... ORPHA:1827
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy OMIM:184260
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Volvulus... ORPHA:210122
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia OMIM:615415
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Mounier-Kühn Syndrome
Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T... ORPHA:3347
Deeah Syndrome
Death in infancy, Neonatal respiratory distress, Decreased response to growth hormone stimulation... OMIM:619004
Microphthalmia, Syndromic 5
Cryptorchidism, Ectopic posterior pituitary, Cleft palate, Micropenis OMIM:610125
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Thanatophoric Dysplasia, Type I
Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:187600
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Lymphatic Malformation 12
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren... OMIM:620014
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... ORPHA:90791
Penile Agenesis
Maternal diabetes, Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal fistula, ... ORPHA:49
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Tracheoesophageal fistula, Cleft palate, Resp... ORPHA:861
Marden-Walker Syndrome
Hypospadias, Cryptorchidism, High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Ellis... OMIM:248700
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Dysphagia OMIM:619083
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure, Adrenal insufficiency OMIM:619386
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Abnormal lung lobation... ORPHA:2538
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Van Esch-O'Driscoll Syndrome
Hypogonadotropic hypogonadism, Esophageal atresia, Pulmonary artery stenosis, Tracheoesophageal f... OMIM:301030
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Pulmonary hypoplasia OMIM:263210
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea ORPHA:2759
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Recurrent respiratory infections, Hypoparathyroidism, Thyroid hemiagenesis, H... ORPHA:209905
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Small pituitary gland,... OMIM:619476
17Q12 Microduplication Syndrome
Tracheoesophageal fistula, Cleft palate ORPHA:261272
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... OMIM:615842
Hypophosphatasia
Emphysema, Respiratory insufficiency ORPHA:436
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Respiratory failure, Respiratory insufficiency ORPHA:370968
Atelosteogenesis Type I
Malrotation of colon, Laryngotracheal stenosis, Cleft palate, Pulmonary hypoplasia, Abnormal panc... ORPHA:1190
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism OMIM:613724
Schisis Association
Anal atresia, Tracheoesophageal fistula, Cleft palate ORPHA:63862
Caudal Regression Syndrome
Maternal diabetes, Cryptorchidism, Hypertension, Pulmonary hypoplasia, Ambiguous genitalia, Anal ... ORPHA:3027
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased ... ORPHA:177907
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Pectus excavatum, Cryptorchidism, Cleft palate, High palate, Pulmonary hypo... OMIM:612530
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Miscarriage, Pulmonary embolism ORPHA:82
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:607625
Jung Syndrome
Tracheal stenosis, Recurrent respiratory infections, Hypothyroidism ORPHA:2321
Pulmonary Alveolar Microlithiasis
Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural thickening, Pneumothorax, T... ORPHA:60025
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis, Hypoplasia of penis, Decreased response to growth hormone stimulation test, Co... OMIM:601427
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Isolated Exencephaly
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes ORPHA:563612
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Pulmonary hypoplasia OMIM:616866
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:95513
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... ORPHA:185
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Cryptorchidism, Alveolar capillary dysplasia, Respiratory insuffic... OMIM:601186
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Bronchomalacia, Adrenal hypoplasia, Atelectasis, Rectal prolapse, Recurrent pne... OMIM:613177
Jeune Syndrome
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:474
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs ORPHA:1027
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pulmonary hypoplasia, Neonatal death OMIM:231680
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Orthostatic hypotension, Reduced c... ORPHA:95512
Fanconi Anemia
High palate, Abnormality of the uterus, Abnormality of the hypothalamus-pituitary axis, Hypospadi... ORPHA:84
Dyssegmental Dysplasia, Silverman-Handmaker Type
Miscarriage, Cryptorchidism, Cleft palate, Respiratory insufficiency, Pulmonary hypoplasia ORPHA:1865
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Snakebite Envenomation
Hypopituitarism, Respiratory failure, Respiratory paralysis, Epistaxis ORPHA:449285
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ... OMIM:214800
Antithrombin Iii Deficiency
Arterial occlusion, Pulmonary embolism OMIM:613118
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo... OMIM:265450
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Cryptorchidis... OMIM:613457
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia ORPHA:3035
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Small scrotum, Neonatal respiratory distress, Pectus excavatum, Cryptorchidi... ORPHA:2990
Microphthalmia, Syndromic 11
Agenesis of pineal gland OMIM:614402
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Hyperekplexia 4
Respiratory failure OMIM:618011
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Abnormal soft palate morphology, Cryptorchidism, Tr... ORPHA:138
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Posterior pituitary hypoplasia, Pulmonary artery stenosis, Abnormality of the anterior pituitary,... ORPHA:75389
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ... ORPHA:2357
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia OMIM:151210
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Cleft palate, Micropenis, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Intraut... OMIM:616897
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Male... ORPHA:90790
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... OMIM:171400
48,Xxxy Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Small scrotum, Pulmonary embolism, Cryptor... ORPHA:96263
Teebi Hypertelorism Syndrome 1
Hydrocele testis, Bicornuate uterus, Pulmonary hypoplasia, Shawl scrotum OMIM:145420
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia OMIM:312150
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... ORPHA:308552
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Abnormality of the diencephalon... ORPHA:2570
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... OMIM:234810
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Pyloric stenosis, Anterior... OMIM:619148
Meacham Syndrome
Death in infancy, Partial anomalous pulmonary venous return, Cardiac total anomalous pulmonary ve... OMIM:608978
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Malabsorption, Pulmonary embolism, Abnormal intestine morphology, Budd-Ch... OMIM:226300
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Cryptorchidism, Esopha... OMIM:206900
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Apnea, Episodic tachypnea, Hyperhidrosis, Focal T2 hyperintense thalamic lesion, Asp... ORPHA:79264
Prune Belly Syndrome
Recurrent respiratory infections, Intestinal malrotation, Pectus excavatum, Cryptorchidism, Decre... ORPHA:2970
49,Xxxxy Syndrome
Recurrent respiratory infections, Hypoplasia of penis, Small scrotum, Pulmonary embolism, Cryptor... ORPHA:96264
Genitopatellar Syndrome
Small scrotum, Apnea, Cryptorchidism, Gastroesophageal reflux, Pulmonary hypoplasia, Clitoral hyp... ORPHA:85201
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615108
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duo... OMIM:619227
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Apnea, Protruding tongue, Pectus excavatum, Aspiration, Pseudobulbar... ORPHA:98889
Congenital Contractural Arachnodactyly
Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia ORPHA:115
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency OMIM:608022
Verloove Vanhorick-Brubakk Syndrome
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Abnormality of the parathyroid gland, Cleft palate ORPHA:3429
Peroxisome Biogenesis Disorder 1A (Zellweger)
Neonatal respiratory distress, Hypospadias, Adrenal hypoplasia, Protruding tongue, Cryptorchidism... OMIM:214100
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Fryns Syndrome
Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Cleft palate, Bicornu... ORPHA:2059
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Pectus excavatum, Congestive heart failur... ORPHA:3309
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:253290
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Abnormal lung lobation, Respiratory insufficiency, Anomalous pulmonary venous r... ORPHA:1120
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Mi... OMIM:227646
Williams Syndrome
Hypoplasia of penis, Myocardial infarction, Rectal prolapse, Gastroesophageal reflux, Abnormality... ORPHA:904
Phocomelia, Schinzel Type
Hypoplasia of penis, Cryptorchidism, High, narrow palate, Tracheoesophageal fistula, Cleft palate... ORPHA:2879
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Orthostatic hypotension, Dysphagia ORPHA:2822
Distal Triplication 15Q
Abnormal external genitalia, Hydrocele testis, High palate, Pulmonary hypoplasia, Intrauterine gr... ORPHA:314588
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Hypospadias, Anterior pituitary hypoplasia, Pectus excavatum, Cryptorchidis... ORPHA:464306
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Respiratory distress, Ectopic posterior pituitary, Pectus excavatum,... ORPHA:508488
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea, Abnormal thalamic MRI signal intensity ORPHA:444013
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Pancreatic cysts, Hematemesis, Esophageal varix, Hypertension, Pulmonary hyp... OMIM:263200
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:542323
Lethal Congenital Contracture Syndrome 10
Narrow palate, Macroglossia, High palate, Hypoplasia of the thymus, Pulmonary hypoplasia, Intraut... OMIM:617022
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid agenesis, Cryptorchidism, Ectopic thyroid, Hypothyroidism, Thyroid hy... ORPHA:3047
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume, Dysphagia OMIM:613668
Neurodevelopmental Disorder With Language Delay And Seizures
Cryptorchidism, Hypothyroidism, Hypothalamic hamartoma OMIM:619908
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Hypergonadotropic... ORPHA:352447
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:620321
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615109
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Respiratory failure ORPHA:3226
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... ORPHA:1359
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Intestinal malrotation, Hamartoma of tongue, Atelectasis, Respiratory insuff... OMIM:269860
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti... ORPHA:90060
Thyroid Ectopia
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid ORPHA:95712
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Congestive heart failure, Telangiectasia, Azoos... OMIM:235200
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Death in infancy, Respiratory distress, Unilateral cryptorchidism, Hypospadias, Bi... OMIM:300219
Microcephaly-Micromelia Syndrome
Neonatal death, Pulmonary hypoplasia OMIM:251230
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Crackles, Respiratory tract infection, Raynaud phenomenon, Dyspnea, Whe... ORPHA:79128
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hamartoma of tongue, Cryptorchidism, Cleft palate, Respiratory insufficiency, Lobulated tongue, S... OMIM:616300
Neurooculorenal Syndrome
Ectopic posterior pituitary, Decreased circulating cortisol level, Intestinal malrotation, Crypto... OMIM:620305
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Pulmonary hypoplasia OMIM:608149
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora... ORPHA:464321
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome OMIM:201910
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Decreased eosinophil count, Recurren... OMIM:619632
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Respiratory insufficiency due to muscle w... ORPHA:2905
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Timothy Syndrome
Prolonged QT interval, Pneumonia, Bronchitis, Ventricular tachycardia, Atrioventricular block, Br... OMIM:601005
14Q22Q23 Microdeletion Syndrome
Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Abnormality of ... ORPHA:264200
Achondrogenesis
Aplasia/Hypoplasia of the lungs ORPHA:932
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis OMIM:242700
Achondroplasia
Respiratory distress, Death in infancy, Upper airway obstruction, Pulmonary hypoplasia OMIM:100800
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Monorchism, High, narrow palate, Submucous cleft hard palate, P... ORPHA:2753
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery a... ORPHA:99050
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Pulmonary hypoplasia, Neonatal death OMIM:608013
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immotile cilia... OMIM:244400
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Primary amenorrhea, Adrenogenital syndrome, Hype... OMIM:202110
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis OMIM:619708
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Abnormality of the menstrual cycle, Congestive h... ORPHA:90308
Craniosynostosis 4
Ectopic posterior pituitary OMIM:600775
Congenital Myopathy 17
Respiratory tract infection, Pulmonary hypoplasia, Respiratory insufficiency OMIM:618975
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... ORPHA:300373
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Abnormal lung lobation, Cleft palate, Stillbirth, Adrenal gland dysgen... OMIM:236680
Meier-Gorlin Syndrome 7
Anal stenosis, Hypospadias, Heart block, Cryptorchidism, Cleft palate, Duodenal stenosis, Anterio... OMIM:617063
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Meckel Syndrome, Type 6
Bilobed right lung, Pulmonary hypoplasia OMIM:612284
Maternal Uniparental Disomy Of Chromosome 6
Miscarriage, Cleft palate, Hydrocele testis, Increased serum testosterone level, Intrauterine gro... ORPHA:96181
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Tarp Syndrome
Apnea, Pectus excavatum, Cryptorchidism, Cleft palate, Glossoptosis, Pulmonary hypoplasia, Abnorm... ORPHA:2886
Thakker-Donnai Syndrome
Intrauterine growth retardation, Rectovaginal fistula, Tracheoesophageal fistula, Anal atresia ORPHA:1780
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Peripartum Cardiomyopathy
Orthopnea, Diabetes mellitus, Abnormality of thyroid physiology, Crackles, Dyspnea, Asthma, Respi... ORPHA:563
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:369929
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Glossitis, High palate, Tracheoesophageal fistula OMIM:277380
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Cleft palate, Anteriorly placed anus,... OMIM:151050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Cleft palate, Hydrocele testis, Gastroesophageal reflux, High palate, Pulmonary hy... OMIM:614080
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty OMIM:612702
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... ORPHA:98913
Riddle Syndrome
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... ORPHA:420741
Neurodevelopmental Disorder With Seizures And Brain Atrophy
High palate, Decreased thalamic volume OMIM:619072
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Adrenal hypoplasia, Mild intrauterine growth retardation, Stillbirth, Pulmonary hypoplasia, Thyro... OMIM:308050
Feingold Syndrome 1
Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Gastrointestinal atresia, Tracheoesophag... OMIM:164280
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... ORPHA:276399
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Aganglionic megacolon, Intestinal malrotat... OMIM:229850
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Abnormal lung lobation, Aplasia/Hypoplasia of the lungs, Tracheal stenosis, Vagin... ORPHA:3301
Meckel Syndrome 14
Pneumothorax, Pulmonary hypoplasia, Cardiorespiratory arrest OMIM:619879
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Thyroid hypoplasia, Adrenal hypop... ORPHA:2166
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Pancreatic fibrosis, Hypoplasia of the small intestine, Pulmonary hypoplasia, ... OMIM:200995
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Pagod Syndrome
Death in infancy, Sudden cardiac death, Abnormal morphology of female internal genitalia, Agonadi... ORPHA:991
Joubert Syndrome 21
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis OMIM:615636
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification, Dysphagia OMIM:618317
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Hypospadias, Maternal diabetes, Abnormal lung morpholo... ORPHA:1708
Keutel Syndrome
Recurrent respiratory infections, Pulmonary artery stenosis, Calcification of cartilage, Recurren... ORPHA:85202
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morphology, Bro... OMIM:620233
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Pancreatic cysts, Bile duct pro... OMIM:208540
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Intestinal malrotation, Cryptorchidism, Cleft palate, Abnormal thalamus morphology, Bifid uvula, ... ORPHA:404440
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Small pituitary gland OMIM:614880
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Type I diabetes mellitus OMIM:620166
Tetraploidy
Aplasia/Hypoplasia of the lungs ORPHA:3305
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Spondylodysplastic Ehlers-Danlos Syndrome
Agenesis of pineal gland, Cryptorchidism, Cleft palate, Respiratory insufficiency, Restrictive ve... ORPHA:536471
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Abnormal internal genitalia, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Res... ORPHA:2973
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs ORPHA:93298
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Hyperinsulinemia ORPHA:363400
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs ORPHA:2635
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Orthopnea, Nonproductive cough, Dyspnea, Recurrent pneumonia, B... ORPHA:980
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anal stenosis, Anterior pituitary hypoplasia, Imperfo... OMIM:181450
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... ORPHA:258
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Stankiewicz-Isidor Syndrome
Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis OMIM:617516
Limited Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Gastroesophageal reflux, Pulmonary fibrosis, Dysphagia, Pulmonary art... ORPHA:220402
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Elevated pulmonary artery pressure, Pulmonary... OMIM:619351
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Pectus excavatum, Cryptorchidism, Cleft palate, High palate, Abnormality of the Leyd... ORPHA:3063
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Pancreatic fibrosis, Pulmonary hypoplasia OMIM:615503
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Fanconi Anemia, Complementation Group L
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Aplasia of the uterus, Intrauterine ... OMIM:614083
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circulating free T3,... ORPHA:525731
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cryptorchidism, Respiratory failure, Death in infancy ORPHA:1194
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Recurrent upper respiratory tract infections, Hypothyroidism, Pulmonary arteri... ORPHA:391372
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Suprav... ORPHA:75249
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... OMIM:219080
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... OMIM:103900
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Greenberg Dysplasia
Barrel-shaped chest, Costal cartilage calcification, Abnormal lung lobation, Tracheal calcificati... OMIM:215140
Neu-Laxova Syndrome
External genital hypoplasia, Submucous cleft hard palate, Cleft palate, Hypogonadism, Pulmonary h... ORPHA:2671
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs ORPHA:93299
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Hypotension, Dela... ORPHA:2965
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Cryptorchidism, Abnormal lung lobation, Narrow palate, Aplasia/Hypoplasia of the lungs, Anal atresia ORPHA:2063
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Death in infancy, Pancreatic fibrosis, Pancreatic cysts, Respir... OMIM:208500
Alexander Disease Type I
Abnormal thalamic MRI signal intensity, Dysphagia ORPHA:363717
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Hypogonadotropic hypogonad... OMIM:308700
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Hamartoma of tongue, Esophageal diverticulum, Uterus didelphy... OMIM:617925
Craniosynostosis, Herrmann-Opitz Type
Aplasia/Hypoplasia of the lungs ORPHA:2145
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tachypnea, Anomalous pulmonary venous return,... ORPHA:555874
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:614091
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... OMIM:615830
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean OMIM:604320
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Thanatophoric Dysplasia Type 2
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:93274
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Fraser Syndrome
Death in infancy, Hypoplasia of penis, Small scrotum, Hypospadias, Anal stenosis, Tracheal stenos... ORPHA:2052
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis ORPHA:896
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Peripheral pulmonary vessel aplasia,... OMIM:273395
Stuve-Wiedemann Syndrome 2
Respiratory distress, Congestive heart failure, Death in adolescence, Pulmonary arterial hyperten... OMIM:619751
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... ORPHA:99105
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hyposp... ORPHA:2959
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Multiple Pterygium Syndrome, Escobar Variant
Neonatal respiratory distress, Hypospadias, Cryptorchidism, Absence of labia majora, Cleft palate... OMIM:265000
Renal Agenesis
Pulmonary hypoplasia ORPHA:411709
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru... ORPHA:2414
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... ORPHA:99889
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism ORPHA:99015
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pulmonary fibrosis, Oral leukoplakia OMIM:618165
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Microg... OMIM:263520
Achondrogenesis, Type Ia
Stillbirth, Pulmonary hypoplasia OMIM:200600
Pentalogy Of Cantrell
Absent gallbladder, Hypospadias, Pulmonary hypoplasia, Cleft palate ORPHA:1335
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant... ORPHA:91351
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu... ORPHA:1329
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Diabetes mellitus, Respiratory insufficiency OMIM:613845
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal ... OMIM:236700
Giant Axonal Neuropathy
Abnormal pituitary gland morphology ORPHA:643
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Sirenomelia
Ambiguous genitalia, Tracheoesophageal fistula, Anal atresia ORPHA:3169
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Hypospadias, Aganglionic megacolon, Tracheal stenosis, Cryptorchidism, Pylor... ORPHA:818
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Thoracoabdominal Syndrome
Pulmonary hypoplasia OMIM:313850
Diaphragmatic Hernia 4, With Cardiovascular Defects
Neonatal respiratory distress, Aortopulmonary window, Pulmonary artery hypoplasia, Pulmonary hypo... OMIM:620025
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema OMIM:178400
Cach Syndrome
Premature ovarian insufficiency, T2 hypointense thalamus, Secondary amenorrhea, Primary amenorrhe... ORPHA:135
Cog2-Cdg
Small pituitary gland ORPHA:435934
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Stuve-Wiedemann Syndrome 1
Death in infancy, Apnea, Pulmonary arterial medial hypertrophy, Respiratory insufficiency, Pulmon... OMIM:601559
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology ORPHA:467166
Fontaine Progeroid Syndrome
Death in infancy, Absent nipple, Small scrotum, Tricuspid regurgitation, Protruding tongue, Crypt... OMIM:612289
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating... ORPHA:64
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Miscarriage, Dysphagia ORPHA:1947
Ogden Syndrome
Apnea, Maternal diabetes, Ventricular tachycardia, High palate, Supraventricular tachycardia, Asp... OMIM:300855
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... ORPHA:536467
Hypocomplementemic Urticarial Vasculitis
Dyspnea, Emphysema, Restrictive ventilatory defect, Cough, Pleural effusion, Airway obstruction ORPHA:36412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure OMIM:606612
Igg4-Related Ophthalmic Disease
Sinusitis, Orchitis, Abnormal lung morphology, Abnormality of the anterior pituitary, Enlarged la... ORPHA:449563
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Respiratory tract infection, Dyspnea, Hydrocele testis, Hypertension, Pleural... ORPHA:567546
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Anomalous origin of one pulmonary artery from ascending aorta,... ORPHA:3384
Oligomeganephronia
Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Braddock Syndrome
Neonatal respiratory distress, Pectus excavatum, Pulmonary arterial hypertension, Pulmonary fibro... ORPHA:52047
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... OMIM:615512
Alg9-Cdg
Villous atrophy, Tricuspid regurgitation, Asthma, Abnormal lung lobation, Bicornuate uterus, Hypo... ORPHA:79328
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Abnormal lung lobation, Gastroesophag... OMIM:270400
Familial Adenomatous Polyposis
Duodenal polyposis, Multiple gastric polyps, Papillary thyroid carcinoma, Adenocarcinoma of the s... ORPHA:733
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... OMIM:620186
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum... ORPHA:31204
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Neo... ORPHA:662
Chilton-Okur-Chung Neurodevelopmental Syndrome
Hypospadias, Anterior pituitary hypoplasia, Epistaxis, Pectus excavatum, Cryptorchidism, Asthma, ... OMIM:619841
Distal Deletion 15Q
Decreased serum insulin-like growth factor 1, Hypospadias, Mitral stenosis, Cryptorchidism, Cleft... ORPHA:1596
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Anterior pituitary hypoplasia, Su... ORPHA:466791
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Recurrent respiratory infections, Tricuspid regurgitation, Left-to-right sh... OMIM:619534
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Tracheoesophageal fistula ORPHA:268249
Japanese Encephalitis
Respiratory distress, Irregular respiration, Focal T2 hyperintense thalamic lesion, Respiratory p... ORPHA:79139
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Mosaic Trisomy 1
Cleft palate, Pulmonary hypoplasia, Pulmonary artery atresia, Micropenis, Penile hypospadias ORPHA:1692
Netherton Syndrome
Recurrent respiratory infections, Emphysema, Asthma ORPHA:634
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Hypoventilation, Spontaneous pneumothorax, Porta... ORPHA:731
Townes-Brocks Syndrome 1
Bifid scrotum, Anal stenosis, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, T... OMIM:107480
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Raine Syndrome
Neonatal death, Death in infancy, Pulmonary hypoplasia OMIM:259775
Alg1-Cdg
Respiratory failure ORPHA:79327
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion ORPHA:254881
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capillary hema... ORPHA:199241
Acrorenal-Mandibular Syndrome
Absent nipple, Uterus didelphys, Narrow palate, Bicornuate uterus, High palate, Pulmonary hypopla... OMIM:200980
Cardiac-Urogenital Syndrome
Bifid scrotum, Ambiguous genitalia, Tachycardia, Unilateral cryptorchidism, Bronchomalacia, Trach... OMIM:618280
Pallister-Hall Syndrome
Thyroid hypoplasia, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticotropic h... ORPHA:672
Antisynthetase Syndrome
Aortic regurgitation, Recurrent respiratory infections, Telangiectasia of the skin, Cough, Myocar... ORPHA:81
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Telangiectasia of the skin, Malabsorption, Dyspnea, Congestive heart failure, Xerost... ORPHA:220393
Granulomatosis With Polyangiitis
Sinusitis, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Respiratory insufficiency... OMIM:608710
Meckel Syndrome, Type 1
External genital hypoplasia, Adrenal hypoplasia, Intestinal malrotation, Cryptorchidism, Ambiguou... OMIM:249000
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... ORPHA:365
Intrahepatic Cholestasis Of Pregnancy
Neonatal respiratory distress, Hypothyroidism, Abnormal pineal melatonin secretion ORPHA:69665
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Biliary hyperplasia, Cryptorchidism, Pyloric stenosis, Cleft palate, Pulmon... ORPHA:83617
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Fg Syndrome Type 1
Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Cryptorchidism, Pyloric s... ORPHA:93932
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Overlap Myositis
Diabetes mellitus, Raynaud phenomenon, Abnormal pulmonary interstitial morphology, Hypertension, ... ORPHA:206572
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Respiratory failure, Death in childhood OMIM:619847
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... ORPHA:231580
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure ORPHA:679
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Pectus ... OMIM:305400
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Respiratory failure, Respiratory insufficiency ORPHA:746
Cardiomyopathy, Dilated, 2C
Death in infancy, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Death in ch... OMIM:618189
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu... ORPHA:769
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Death in infancy, Focal T2 hyperintense thalamic lesion, Cardiomyopathy OMIM:619046
Hurler-Scheie Syndrome
Aortic regurgitation, Recurrent respiratory infections, Mitral regurgitation, Tracheal stenosis, ... OMIM:607015
Atelosteogenesis Type Ii
Tracheobronchomalacia, Pulmonary hypoplasia ORPHA:56304
Hypomandibular Faciocranial Dysostosis
Recurrent respiratory infections, Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palat... ORPHA:1790
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... ORPHA:293978
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, High, narrow palate, Cleft palate, Stillbirth, High palate, Pulmonary hypoplasia,... OMIM:208150
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage, Abnormal thalamus morphology, Abnormal pattern of respiration ORPHA:88619
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Lethal Congenital Contracture Syndrome 9
Pulmonary hypoplasia, Cardiorespiratory arrest OMIM:616503
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Left ventricular outfl... OMIM:613255
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:91355
Idiopathic Steroid-Resistant Nephrotic Syndrome
Respiratory tract infection, Pulmonary embolism ORPHA:567548
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph... ORPHA:1572
Oculoskeletodental Syndrome
Abnormal thalamus morphology ORPHA:557003
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the lungs, Cleft palate, Ectopic anus, Maternal diabetes ORPHA:2549
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
3P25.3 Microdeletion Syndrome
High, narrow palate, Pyloric stenosis, Cleft palate, Pulmonic stenosis, Abnormal thalamus morphology ORPHA:435638
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... OMIM:615954
Tetrasomy 9P
Absent gallbladder, Pericarditis, Raynaud phenomenon, Cryptorchidism, Cleft palate, Oligozoosperm... ORPHA:3310
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema OMIM:219100
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Hyperaldosteronism, Familial, Type Iii
Hypertension, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... OMIM:616482
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
Schinzel-Giedion Syndrome
Respiratory distress, Streak ovary, Hypospadias, Aganglionic megacolon, Recurrent pneumonia, Cent... ORPHA:798
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula... OMIM:202010
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Behçet Disease
Gastrointestinal hemorrhage, Aortic regurgitation, Pericarditis, Myocardial infarction, Malabsorp... ORPHA:117
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Ulbright-Hodes Syndrome
Abnormal penis morphology, Respiratory distress, Abnormal external genitalia, Enlarged labia mino... ORPHA:3404
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia ORPHA:496641
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Tay-Sachs Disease
Precocious puberty, Abnormal thalamic MRI signal intensity, Aspiration pneumonia, Dysphagia ORPHA:845
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Genitopatellar Syndrome
Anal stenosis, Small scrotum, Enlarged labia minora, Cryptorchidism, Malrotation of small bowel, ... OMIM:606170
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, External genital hypoplasia, Pectus excavatum, Cryptorchidism, Pulmonary artery sten... ORPHA:96334
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Cutis Laxa, Autosomal Dominant 1
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemi... ORPHA:774
Kennedy Disease
Decreased fertility, Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction ORPHA:481
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... ORPHA:90291
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Cervical neoplasm, Aganglionic megacolon, Thyroid C cell hyperpla... ORPHA:653
Tetraamelia Syndrome 2
Bilateral lung agenesis, Hypoplastic pulmonary veins OMIM:618021
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Pancreatic endocrine tumor, Pituitary adenoma,... ORPHA:805
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Pulmonary hypoplasia OMIM:616546
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Precocious puberty, Tracheal stenosis, Abnormality of female ex... ORPHA:2637
Fraser Syndrome 1
Abnormal small intestine morphology, Hypospadias, Cryptorchidism, Cleft palate, Abnormal thymus m... OMIM:219000
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:612336
Holzgreve Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:2167
Thanatophoric Dysplasia Type 1
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:1860
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Precocious puberty, Cleft palate, Pulmonary arterial hypertension, Gas... ORPHA:447980
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Restrictive ventilatory def... ORPHA:538
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, H... OMIM:160900
Otopalatodigital Syndrome Type 2
Glossoptosis, Hypospadias, Pulmonary hypoplasia, Cleft palate ORPHA:90652
Multiple Endocrine Neoplasia, Type Iib
Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasia, Nodular... OMIM:162300
Pulmonary Arteriovenous Malformation
Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Hemothorax, Heart murmur, T... ORPHA:2038
Restrictive Dermopathy 1
Hypospadias, Adrenal hypoplasia, Submucous cleft hard palate, Stillbirth, Pulmonary hypoplasia, N... OMIM:275210
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, High, narrow palate, Recurrent pneumonia, Cleft palate, Furrowed tongue, Pulmonary a... ORPHA:464738
Bloom Syndrome
Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Respiratory fa... ORPHA:125
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Macroglossia, High, narrow palate, Abnormality of the pineal gland, Wolff-Parkinson-White syndrome ORPHA:369950
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami OMIM:617542
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Transient ischemic attack, Supraventricular arrhythmia, Malabsorption, Pulm... ORPHA:3260
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Elevated jugular venous pressure, Diabetes mellitus, Hypogonadotropic hypogon... ORPHA:465508
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Hypospadias, Tracheal stenosis, Cryptorchidi... OMIM:217980
Congenital Disorder Of Glycosylation, Type Iit
Pineal cyst OMIM:618885
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism, Cleft palate, Stillbirth, Pulmonary hypoplasia, Neonatal death, Int... OMIM:256520
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Bile duct proliferation, Respiratory insufficiency OMIM:618329
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia ORPHA:50945
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Recurrent respiratory infections, Neonatal respiratory distress, Respiratory failu... ORPHA:79345
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Recurrent respiratory infections, Hypospadias, Cleft soft palate, Cryptorchidism, Male pseudoherm... ORPHA:2282
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Pericarditis, Gastritis, Dyspnea, Myocarditis, Xerostomia, Abnormal ... ORPHA:809
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai... OMIM:613658
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Respiratory failure OMIM:620327
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Esophageal atresia, Uterus didelphys... ORPHA:93271
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:99125
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Pulmonary artery stenosis, Cardiorespiratory arrest, Respiratory f... ORPHA:3342
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Hypospadias, Decreased response to growth hormone stimulation t... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Hypospadias, Decreased response to growth hormone stimulation t... ORPHA:363958
Sengers Syndrome
Premature ovarian insufficiency, Cardiac arrest, Sudden cardiac death, Respiratory insufficiency,... OMIM:212350
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Multisystemic Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Hypoperistalsis, Cryptorchidism, Tachypnea, Hypertension, Pulmonary arter... OMIM:613834
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... OMIM:608836
Fixed Subaortic Stenosis
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Conges... ORPHA:3092
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Gaucher Disease, Type I
Epistaxis, Dyspnea, Abnormal pulmonary interstitial morphology, Hypertension, Mitral regurgitatio... OMIM:230800
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest ORPHA:26791
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Eosinophilia, Recurrent respiratory infections, Cough ORPHA:2314
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Tachypnea, Gastroesophageal reflux, Pulmonary arterial hypertension OMIM:614857
Catastrophic Antiphospholipid Syndrome
Miscarriage, Angina pectoris, Myocardial infarction, Pulmonary embolism, Transient ischemic attac... ORPHA:464343
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Abnormal lung lobation, Hydrometrocolpos, Anomalous pulmonar... ORPHA:3097
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea, Hamartoma of tongue, Bilateral cryptorchidism, Cleft palate, Lobulated... ORPHA:2754
Holoprosencephaly
Hypoplasia of penis, Diabetes mellitus, Diabetes insipidus, Median cleft lip and palate, Cryptorc... ORPHA:2162
Helsmoortel-Van Der Aa Syndrome
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Pectus e... OMIM:615873
Combined Oxidative Phosphorylation Defect Type 7
Paralytic ileus, Abnormal thalamic MRI signal intensity, Oral-pharyngeal dysphagia ORPHA:254930
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Atrial fibrillation, Dilated cardiomyopathy, Respiratory insu... ORPHA:254892
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary artery aneury... ORPHA:228116
Combined Oxidative Phosphorylation Deficiency 22
Intrauterine growth retardation, Congestive heart failure, Pulmonary arterial hypertension OMIM:616045
Takayasu Arteritis
Myocardial infarction, Vasculitis, Hyperhidrosis, Hypertension, Gastrointestinal infarctions, Cer... ORPHA:3287
Sarcoidosis, Susceptibility To, 1
Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Restri... OMIM:181000
Hydranencephaly
Thalamic edema, Intrauterine growth retardation, Dysgenesis of the thalamus, Antenatal intracereb... ORPHA:2177
Restrictive Dermopathy
Hypospadias, Aplasia/Hypoplastia of the eccrine sweat glands, Submucous cleft hard palate, Pulmon... ORPHA:1662
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent respiratory infections, Perianal abscess, Cryptorchidism, Recurrent upper respiratory t... OMIM:612541
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cryptorchidism, Small pituitary gland, Decreased response to growth hormone stimulation test, Thy... OMIM:619503
Boutonneuse Fever
Respiratory failure ORPHA:83313
Sandhoff Disease, Infantile Form
Mitral regurgitation, Abnormal thalamic MRI signal intensity ORPHA:309155
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion... ORPHA:340
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Igg4-Related Kidney Disease
Pericarditis, Abnormal lung morphology, Abnormality of the anterior pituitary, Thyroiditis, Inter... ORPHA:449395
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape, Abnormal thalamic MRI signal intensity, Dysphagia ORPHA:485421
Vater/Vacterl Association
Hypospadias, Esophageal atresia, Tracheoesophageal fistula, Intrauterine growth retardation, Anal... OMIM:192350
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Abnormality of the endocrine system, Congestive heart failure, Recurrent upper r... ORPHA:391487
Fraser Syndrome 3
Hypoplasia of penis, Small scrotum, Abnormal lung lobation, Stillbirth, Tracheal atresia OMIM:617667
Gaucher Disease Type 1
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Delayed puberty ORPHA:77259
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy, Intestinal pseudo-obstruction, Abnormal thalamic MRI signal intensity ORPHA:70595
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Dyspnea, Pseudohypoparathyroidism, Elevate... ORPHA:94089
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Cardiomyopathy, Dysphagia, Hypothyroidism, Testicular atrophy OMIM:222300
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Abnormality of thyroid physiology, Congestive heart failure, Hypertens... ORPHA:1830
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Congestive heart failure, Ast... ORPHA:444077
Hallermann-Streiff Syndrome
Recurrent respiratory infections, Pectus excavatum, High, narrow palate, Cryptorchidism, Recurren... OMIM:234100
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax OMIM:614816
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Decreased thalamic volume, Cardiomyopathy ORPHA:370959
Keutel Syndrome
Sinusitis, Miscarriage, Recurrent bronchitis, Pulmonary artery hypoplasia, Emphysema, Chronic sin... OMIM:245150
Lipoyltransferase 1 Deficiency
Death in infancy, Bradycardia, Pulmonary arterial hypertension OMIM:616299
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Multinodular goiter OMIM:620189
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Supernumerary nipple, Cryptorchidism, Congenital hypothyroidism, Pulmonary ... ORPHA:2519
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycyst... ORPHA:201
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
High palate, Abnormal thalamus morphology ORPHA:300570
Leigh Syndrome
Respiratory failure, Abnormal thalamic MRI signal intensity, Abnormal pattern of respiration ORPHA:506
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, High-output congestive heart failure, Pulmonary arterial h... ORPHA:231222
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:610505
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Abnormality of the endocrine system, Precocious ... ORPHA:438213
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Diabetes mellitus, Hypergonadotropic hypogona... ORPHA:273
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Cleft palate, Congenital hypothyroidism, Narrow palate... ORPHA:79500
Branchiootorenal Syndrome 1
Euthyroid goiter OMIM:113650
Aceruloplasminemia
Congestive heart failure, Diabetes mellitus, Abnormal pancreas morphology, Abnormal thalamic MRI ... ORPHA:48818
Neuroferritinopathy
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity, Dysphagia ORPHA:157846
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Respiratory failure, Recurrent pneumonia, Recurrent respirato... ORPHA:647
Ellis Van Creveld Syndrome
Hypospadias, Cryptorchidism, Epispadias, Aplasia/Hypoplasia of the lungs, Intrauterine growth ret... ORPHA:289
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Internal hemorrhage, Epid... ORPHA:99827
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu... ORPHA:79444
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Hepatocellular carcinoma, Irregular menstruation, Thyroiditis, Enterocolitis, Polycyst... ORPHA:79259
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Recurrent pneumonia, Cleft palate, Furrowed tongue, High palate, Gastroesophageal re... OMIM:616449
Hydrolethalus
Tracheal atresia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Abnormal fallopian t... ORPHA:2189
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Dysphagia, Hyperhidrosis, Hypertension, Bradycardia, Hypotension... ORPHA:94093
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Bilateral cryptorchidism, Dyspnea, Elevated circulating thyroid-stimul... OMIM:242900
Osteogenesis Imperfecta
Aortic regurgitation, Intestinal obstruction, Neonatal respiratory distress, Cerebral hemorrhage,... ORPHA:666
Listeriosis
Respiratory distress, Respiratory failure, Miscarriage, Pneumonia ORPHA:533
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... ORPHA:51636
Marshall-Smith Syndrome
Apnea, Bilateral cryptorchidism, Cryptorchidism, Pyloric stenosis, Recurrent upper respiratory tr... OMIM:602535
Congenital Disorder Of Deglycosylation 2
Hamartoma of tongue, Macroglossia, High palate, Hypothalamic hamartoma, Dysphagia OMIM:619775
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Histiocytosis-Lymphadenopathy Plus Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Azoospermi... OMIM:602782
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia OMIM:300952
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure ORPHA:79404
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism ORPHA:745
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Melas
Hypoparathyroidism, Wolff-Parkinson-White syndrome, Diabetes mellitus, Hypogonadotropic hypogonad... ORPHA:550
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonary arterial hyp... OMIM:106700
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Sudden cardiac death, Neoplasm of the thymus, Enlarged p... ORPHA:744
Dpagt1-Cdg
Intracranial hemorrhage, Prolonged QT interval, Pulmonary hypoplasia ORPHA:86309
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pectus excavatum, Esophageal varix, Abnormal pulmonary intersti... ORPHA:2072
Chronic Bilirubin Encephalopathy
Central apnea, Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Central apnea, Abnormal thalamic MRI signal intensity ORPHA:529799
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism ORPHA:743
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Pulmonary artery atresia, Pul... ORPHA:974
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Decreased response to growth hormone stimulation test, Secondary amenorrhe... ORPHA:529962
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism ORPHA:624
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Death in infancy, Pulmonary arterial hypertension, Death in childhood OMIM:619064
Fraser Syndrome 2
Respiratory failure, Hypoplasia of the thymus OMIM:617666
Craniofacioskeletal Syndrome
Barrel-shaped chest, Absent gallbladder, Hypospadias, Cryptorchidism, Cleft palate, Tracheal sten... OMIM:300712
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension, Death in adolescence OMIM:619059
Frontometaphyseal Dysplasia 2
Pectus excavatum, Cryptorchidism, Pyloric stenosis, Cleft palate, Ulcerative colitis, Stridor, Ga... OMIM:617137
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart murmur, Syncop... ORPHA:422
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu... ORPHA:79443
Acute Disseminated Encephalomyelitis
Respiratory failure requiring assisted ventilation, Abnormal thalamic MRI signal intensity ORPHA:83597
Niemann-Pick Disease Type C
Abnormal lung morphology, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia ORPHA:646
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Orthopnea, Tachycardia, ... ORPHA:2041
Chorea, Benign Hereditary
Chorea OMIM:118700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Peripheral pulmonary artery stenosis, Anal stenosis, Hydrocele testis, High palate, Gastroesophag... ORPHA:280633
Oculoectodermal Syndrome
Hypertrophic cardiomyopathy, Transient ischemic attack, Supernumerary nipple, Pineal cyst OMIM:600268
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Recurrent pneumonia, Respiratory insufficiency, Emphysema, Peripheral pulmonary art... ORPHA:90349
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormality of the pulmonary artery ORPHA:363618
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Cryptorchidism, Cleft palate, Respiratory insufficiency, Intracr... ORPHA:163979
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Hypospadias, Mitral stenosis, Cryptorchidism, Pulmonary arteria... ORPHA:163956
Meier-Gorlin Syndrome 6
Tracheobronchomalacia, Recurrent respiratory infections, Emphysema OMIM:616835
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:2912
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension OMIM:300887
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Emphysema ORPHA:357074
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Gaucher Disease Type 3
Pulmonary arterial hypertension, Recurrent respiratory infections, Abnormal pulmonary interstitia... ORPHA:77261
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Tachypnea, Hypertension, Death in childhood, Pulmonary arterial hypertension OMIM:613320
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Cryptorchidism, High, narrow palate, Pineal cyst, ... OMIM:300967
Pallister-Killian Syndrome
Small scrotum, Anteriorly placed anus, Apneic episodes in infancy, Bifid uvula, Hyperventilation,... OMIM:601803
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased p... ORPHA:70591
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Holoprosencephaly 7
Bilateral cleft palate, Absent nasal septal cartilage, Cleft palate, Fusion of the left and right... OMIM:610828
Larsen Syndrome
Bronchomalacia, Tracheomalacia, Pectus excavatum, Cryptorchidism, Cleft palate, Tracheal stenosis... OMIM:150250
Neutral Lipid Storage Myopathy
Diabetes mellitus, Chronic pancreatitis, Congestive heart failure, Pineal cyst, Cardiomyopathy ORPHA:98908
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Asthma, Ectopic thyroid, Hypothyroidism ORPHA:3206
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Bar... ORPHA:505248
Costello Syndrome
Tracheomalacia, Respiratory failure, Pneumothorax, Respiratory insufficiency OMIM:218040
Abetalipoproteinemia
Respiratory failure, Hypothyroidism ORPHA:14
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Cryptorchidism, Respiratory failure, Breast aplasia ORPHA:2554
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Neonatal Marfan Syndrome
Neonatal respiratory distress, Emphysema, Hypoxemia ORPHA:284979
Microphthalmia, Syndromic 1
Hypospadias, Aganglionic megacolon, Pectus excavatum, Cryptorchidism, Rectal prolapse, High, narr... OMIM:309800
Orofaciodigital Syndrome I
Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue nodules, Ovarian cyst, Lobulated tong... OMIM:311200
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Sinus tachycardia, Telangiectasia of the skin, My... ORPHA:221
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Respiratory distress, Persistent fetal circulation, Pyloric stenosis... ORPHA:363705
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Pectus excavatum, Esophageal varix, Intracranial... ORPHA:394
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Pleural effusion, Recurrent pneumonia, Cough OMIM:306400
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Pulmonary ... OMIM:619051
Carey-Fineman-Ziter Syndrome 1
Cryptorchidism, Cleft palate, Respiratory insufficiency, Glossoptosis, High palate, Gastroesophag... OMIM:254940
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:252010
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Thyroiditis, Enlargement of parotid gland, Nodular goiter, Abnormal sal... ORPHA:79078
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Acute respiratory distress syndrome, Portal hypertension, Cryptorchidism, Wheezing, Respiratory i... OMIM:620005
Degcags Syndrome
Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Intrauterine growth retardation,... OMIM:619488
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Lethal Acantholytic Erosive Disorder
Respiratory failure ORPHA:158687
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Crackles, Right ven... ORPHA:99095
Glycogen Storage Disease Ic
Spider hemangioma, Chronic pancreatitis, Recurrent upper respiratory tract infections, Hypertensi... OMIM:232240
Congenital Disorder Of Glycosylation, Type It
Decreased serum insulin-like growth factor 1, Tachycardia, Sudden cardiac death, Dyspnea, Dilated... OMIM:614921
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Cleft palate ORPHA:2165
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension OMIM:152900
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Athyreosis
Thyroid agenesis, Hypothyroidism ORPHA:95713
Microcephaly 30, Primary, Autosomal Recessive
Tracheal stenosis, Intrauterine growth retardation, Cleft soft palate OMIM:620183
De Barsy Syndrome
Recurrent sinopulmonary infections, Emphysema ORPHA:2962
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Pulmonary venous hypertension ORPHA:3202
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami OMIM:619306
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Supraventricular tachycardi... ORPHA:97214
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage, Elevated circulating erythropo... OMIM:263400
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Hypospadias, High palate, Bradycardia, Pulmonary arterial hypertension OMIM:619272
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Pneumonia, Recurrent upper respiratory tract infections, Macroglossia, C... OMIM:253200
Gaucher Disease
Death in infancy, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Pulmonar... ORPHA:355
Orofaciodigital Syndrome Vi
Hamartoma of tongue, Cleft palate, Lobulated tongue, High palate, Hypothalamic hamartoma, Tongue ... OMIM:277170
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Supernumerary nipple, Cryptorchidism, Cleft palate, Microphallus, Pulmonary arteri... OMIM:618454
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn... ORPHA:275766
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Pulmonary ... ORPHA:79282
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Respiratory insufficiency, Hypertension, Second degree atrioventricular block, Pulmonary arterial... OMIM:617021
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm OMIM:614437
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Emphysema, Unilateral lung agenesis, Respiratory failure ORPHA:500150
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Ctcf-Related Neurodevelopmental Disorder
Phimosis, Cryptorchidism, Cleft palate, Hypoplastic labia majora, Mitral regurgitation, Gastroeso... ORPHA:363611
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Pulmonary embolism, Perianal abscess, Recurrent pancreatitis ORPHA:444490
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Tracheomalacia, Gastroesophageal reflux, Cleft palate, Pineal cyst ORPHA:513456
17Q23.1Q23.2 Microdeletion Syndrome
Dyspnea, Pulmonary arterial hypertension, Gastroesophageal reflux, Shawl scrotum, Intrauterine gr... ORPHA:261279
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Emphysema OMIM:224690
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Hypospadias, Cryptorchidism, Cleft palate, Aplasia/Hypoplasia o... ORPHA:280
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Oral leukoplakia OMIM:613987
Fabry Disease
Dyspnea, Emphysema, Chronic pulmonary obstruction, Respiratory insufficiency ORPHA:324
Immunodeficiency 87 And Autoimmunity
Necrotizing enterocolitis, Villous atrophy, Atrophic gastritis, Dilated cardiomyopathy, Cleft pal... OMIM:619573
Schwartz-Jampel Syndrome
Death in infancy, Apnea, Pectus excavatum, Cleft palate, Respiratory insufficiency, Pulmonary art... ORPHA:800
Focal Dermal Hypoplasia
Telangiectasia of the skin, Aplasia/Hypoplasia of the lungs, Gastroesophageal reflux, Abnormality... ORPHA:2092
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Spondyloepimetaphyseal Dysplasia, Shohat Type
Tracheal stenosis, Abnormal bronchus morphology, Upper airway obstruction ORPHA:93352
Adams-Oliver Syndrome 1
Supernumerary nipple, Pulmonary artery stenosis, Cleft palate, Hypertension, Pulmonic stenosis, P... OMIM:100300
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Second degree atrioventricular block, Primary hyperaldosteronism, Pulmonary arteria... OMIM:615474
Cardiomyopathy, Dilated, 2D
Death in infancy, Tricuspid regurgitation, Dilated cardiomyopathy, Pulmonary arterial hypertensio... OMIM:619371
Myhre Syndrome
Cryptorchidism, Respiratory failure, Respiratory insufficiency OMIM:139210
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Respiratory failure OMIM:300868
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, High palate ORPHA:2720
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Hyperten... OMIM:606721
Sarcoidosis
Abnormal nasal mucosa morphology, Eosinophilia, Abnormal pleura morphology, Dyspnea, Abnormal lun... ORPHA:797
Chand Syndrome
Atelectasis ORPHA:1401
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Precocious puberty, Gastrointestinal stroma tumor, Abnormal lung morp... ORPHA:97685
Lymphatic Malformation 13
Hydrocele testis, Mitral regurgitation, Neonatal death, Pulmonary arterial hypertension, Chronic ... OMIM:620244
Relapsing Polychondritis
Dyspnea, Atelectasis, Abnormal pattern of respiration, Cough ORPHA:728
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Exertional ... OMIM:265400
Melnick-Needles Syndrome
Recurrent respiratory infections, Pectus excavatum, Cleft palate, Stillbirth, Pulmonary arterial ... OMIM:309350
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, High, narrow palate, High palate, Gastroesophageal reflux... OMIM:619472
Chondrodysplasia Punctata 2, X-Linked Dominant
Tracheal calcification, Tracheal stenosis OMIM:302960
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Abnormal testis morphology ORPHA:2556
Incontinentia Pigmenti
Telangiectasia of the skin, Supernumerary nipple, Congestive heart failure, Retinal hemorrhage, H... ORPHA:464
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Hypovolemia, Esophageal varix, Primary adrenal insufficiency, Hypotension,... ORPHA:275761
Nestor-Guillermo Progeria Syndrome
Decreased serum leptin, Dyspnea, Right bundle branch block, Hypertension, Mitral regurgitation, P... OMIM:614008
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Respiratory failure, Abnormal circulating calcium-phosphate regulating hormone concentra... ORPHA:2636
3Q29 Microdeletion Syndrome
Hypospadias, Pectus excavatum, High palate, Gastroesophageal reflux, Pulmonary arterial hypertension ORPHA:65286
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... OMIM:615343
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Malabsorption, Heart block, Respiratory insufficiency, Cardiomyopathy, Tra... ORPHA:175
Sturge-Weber Syndrome
Conjunctival telangiectasia, Pulmonary embolism, Dysphagia ORPHA:3205
Hereditary Cryohydrocytosis With Reduced Stomatin
Decreased thalamic volume ORPHA:168577
Autosomal Dominant Cutis Laxa
Bronchiolitis, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis ORPHA:90348
Atrial Septal Defect 9
Pulmonary arterial hypertension OMIM:614475
Geleophysic Dysplasia 1
Tricuspid stenosis, Pectus excavatum, Congestive heart failure, Aortic valve stenosis, Tracheal s... OMIM:231050
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, High palate, Raynaud phenomenon, Mitral stenosis,... ORPHA:740
Marfan Syndrome
Pulmonary artery dilatation, Emphysema, Spontaneous pneumothorax ORPHA:558
15Q Overgrowth Syndrome
Tricuspid regurgitation, High, narrow palate, Pulmonary arterial hypertension, Mitral regurgitati... ORPHA:314585
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Anal stenosis, Stridor, Gastroesophageal reflux, Dysphagia, Pulmonary arte... OMIM:620029
Lesch-Nyhan Syndrome
Testicular atrophy, Dysphagia OMIM:300322
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Cleft hard palate, Webbed penis, Micropenis, Abnormality of the pulmonary artery, ... ORPHA:261537
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension OMIM:259420
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Esophageal varix, Pulmonic stenosis OMIM:616028
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:304120
Familial Thrombocytosis
Miscarriage, Transient ischemic attack, Hyperhidrosis, Syncope, Cerebral ischemia, Pulmonary arte... ORPHA:71493
Osteopetrosis With Renal Tubular Acidosis
Pectus excavatum, Pulmonary arterial hypertension, High palate, Secondary hyperparathyroidism ORPHA:2785
Marfan Syndrome
Pulmonary artery dilatation, Emphysema, Pneumothorax OMIM:154700
Overhydrated Hereditary Stomatocytosis
Pulmonary embolism OMIM:185000
Mowat-Wilson Syndrome
Bifid scrotum, Cleft hard palate, Gastrointestinal dysmotility, Webbed penis, Micropenis, Bifid u... ORPHA:2152
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Apnea, Pulmonary artery stenosis, Chronic rhinitis, Pulmonary a... ORPHA:667
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Cleft hard palate, Webbed penis, Micropenis, Abnormality of the pulmonary artery, ... ORPHA:261552
Cirrhosis, Familial
Hypertension, Esophageal varix, Pulmonary arterial hypertension OMIM:215600
Norrie Disease
Diabetes mellitus, Cryptorchidism, Erectile dysfunction, Uterine rupture, Abnormality of the dien... ORPHA:649
Yunis-Varon Syndrome
Hypospadias, Cryptorchidism, High, narrow palate, Pyloric stenosis, Renovascular hypertension, Hy... ORPHA:3472
Paroxysmal Nocturnal Hemoglobinuria
Esophageal spasms, Myocardial infarction, Pulmonary embolism, Dyspnea, Odynophagia, Hypertension,... ORPHA:447
Craniofacial Microsomia 1
Pulmonary hypoplasia OMIM:164210
Wrinkly Skin Syndrome
Recurrent sinopulmonary infections, Emphysema ORPHA:2834
Pulmonary Hypertension, Primary, 2
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni... OMIM:615342
Yunis-Varon Syndrome
Absent nipple, Hypospadias, Cryptorchidism, Pyloric stenosis, Heart murmur, Pulmonary arterial hy... OMIM:216340
Encephalocraniocutaneous Lipomatosis
Pulmonary arterial hypertension, Aortic valve stenosis, Abnormal cartilage morphology ORPHA:2396
Geleophysic Dysplasia 2
Tricuspid stenosis, Respiratory insufficiency, Mitral regurgitation, Aortic valve stenosis, Pulmo... OMIM:614185
Generalized Arterial Calcification Of Infancy
Respiratory distress, Calcification of the auricular cartilage, Transient ischemic attack, Adrena... ORPHA:51608
Blau Syndrome
Pericarditis, Dyspnea, Xerostomia, Large vessel vasculitis, Hypertension, Pulmonary arterial hype... ORPHA:90340
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic regurgitation, Barrel-shaped chest, Tricuspid regurgitation, Mitral stenosis, Tricuspid st... OMIM:143095
Laubry-Pezzi Syndrome
Aortic regurgitation, Mildly reduced left ventricular ejection fraction, Congestive heart failure... ORPHA:99094
Aorta Coarctation
Congestive heart failure, Hypertension, Pulmonary arterial hypertension ORPHA:1457
Cog1-Cdg
Pulmonary arterial hypertension, High palate ORPHA:263508
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Chalazion OMIM:613355
Benign Hereditary Chorea
ORPHA:1429

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 Nkx2-1

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 Nkx2-1.

No publications found that use IMPC mice or data for Nkx2-1.

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MGI Allele Allele Type Produced
Nkx2-1tm119413(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Nkx2-1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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