Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nkx2-1 mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Thyroid Cancer, Nonmedullary, 1
Goiter, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma OMIM:188550
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Agenesis of corpus callosum, Cavum septum pellucidum, Asthma, Abnormality of... ORPHA:209905
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated bronchoalveolar lavage fluid neutrophil proportion, Hypoxemia, Crackles, Tachypnea, Cong... OMIM:610978
Chorea, Benign Hereditary
Chorea OMIM:118700
Athyreosis
Hypothyroidism, Thyroid agenesis 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
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Thyroid Cancer, Nonmedullary, 1
Goiter, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma OMIM:188550
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Th... OMIM:301035
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Papillary thyroid carcinoma, Euthyroid multinodular goiter OMIM:138800
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Thyroid Cancer, Nonmedullary, 4
Goiter, Non-medullary thyroid carcinoma OMIM:616534
Thyroid Dyshormonogenesis 3
Goiter, Compensated hypothyroidism, Thyroid carcinoma, Increased T3/T4 ratio OMIM:274700
Thyroid Dyshormonogenesis 5
Goiter, Hypothyroidism OMIM:274900
Thyroid Dyshormonogenesis 4
Goiter, Hypothyroidism OMIM:274800
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Thyroid Dyshormonogenesis 2A
Goiter, Thyroid defect in oxidation and organification of iodide, Hypothyroidism OMIM:274500
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T3 OMIM:188570
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism, Agenesis of corpus callosum OMIM:225040
Hypothyroidism, Congenital, Nongoitrous, 5
Ectopic thyroid, Hypothyroidism, Thyroid hypoplasia, Congenital hypothyroidism OMIM:225250
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Thyroid Hormone Metabolism, Abnormal, 1
Elevated circulating thyroid-stimulating hormone concentration OMIM:609698
Isolated Growth Hormone Deficiency, Type Iv
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... OMIM:618157
Pendred Syndrome
Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274600
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Pulmonary hypoplasia OMIM:615228
Blepharochalasis And Double Lip
Goiter OMIM:109900
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Goiter, Impaired sensitivity to thyroid hormone OMIM:274300
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Recurrent upper respiratory tract infections, Delayed puberty, ... OMIM:614963
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Larsen-Like Syndrome, Lethal Type
Neonatal death, Respiratory insufficiency, Tracheomalacia, Pulmonary hypoplasia OMIM:245650
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Pulmonary hypoplasia OMIM:614096
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Tracheoesophageal fistula, Cough, Laryngotracheal stenosis, Dyspnea... ORPHA:142
Thymic Aplasia With Fetal Death
Stillbirth, Pulmonary hypoplasia OMIM:274210
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Anterior pituitary hypoplasia, Adrenocorticotropic hormone deficiency, P... ORPHA:231720
Bronchopulmonary Dysplasia
Emphysema, Abnormal respiratory system physiology, Respiratory failure requiring assisted ventila... ORPHA:70589
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Larynx Atresia
Recurrent respiratory infections, Respiratory insufficiency ORPHA:1202
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Anterior hypopitu... OMIM:221750
Rhabdomyosarcoma, Embryonal, 2
Goiter, Thyroid nodule, Multinodular goiter, Ovarian thecoma OMIM:180295
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Chronic pulmonary obstruction, Panacinar emphysema, Wheezing OMIM:613490
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Tachypnea, Respirat... OMIM:263000
Glaucoma-Sleep Apnea Syndrome
Respiratory insufficiency, Sleep apnea ORPHA:2085
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 radioactive iodine uptake, Increased circulating prolactin concentration, Decreased circu... ORPHA:99832
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Tac... OMIM:265120
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Cerebral dysmyelination, Hyperintensity of cerebral white matter on MRI, Respiratory failure, Res... OMIM:611722
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Respiratory ... ORPHA:60033
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Death in infancy, Nodular pattern on pulmonary HRCT, Crazy paving pattern, ... OMIM:610921
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Micropenis, Anterior hypopituitarism, Microglossia, Death in infancy, Cle... OMIM:241800
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Neonatal death, Pulmonary arterial hypertension, Pulmonary hypoplasia OMIM:619003
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal pleura morphology, Abnormal pattern of respiration, Abno... ORPHA:724
Thyroid Hormone Resistance, Selective Pituitary
Hyperthyroidism, Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulatin... OMIM:145650
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Abnormal eosinophil morphology, Cough, Bronchiectasis, Pulmonary arterial hype... ORPHA:1164
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Fanconi Anemia, Complementation Group B
Intrauterine growth retardation, Micropenis, Tracheoesophageal fistula, Esophageal atresia, Hypop... OMIM:300514
Septooptic Dysplasia
Agenesis of corpus callosum, Diabetes insipidus, Anterior pituitary hypoplasia, Absent septum pel... OMIM:182230
Asbestos Intoxication
Nonproductive cough, Restrictive ventilatory defect, Pleural thickening, Hypoxemia, Late inspirat... ORPHA:2302
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Hypothyroidism, Reduced circulating pro... OMIM:300888
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronch... OMIM:608647
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Septo-optic dysplasia, Agenesis ... ORPHA:95494
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Aspirati... ORPHA:90117
Tracheal Agenesis
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:3346
Vacterl/Vater Association
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Cryptorchidism, Abnormal morpho... ORPHA:887
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency, Bilateral lung agenesis OMIM:601612
Myxedema
Goiter, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration OMIM:255900
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Congenital Hypothyroidism
Sinusitis, Hypothyroidism, Abnormality of reproductive system physiology, Arrhythmia, Abnormality... ORPHA:442
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Papillary thyroid carcinoma, Nodular goiter, Follicular thyroid carcinoma ORPHA:319487
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Agenes... ORPHA:3157
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Decreased circulating T4 level, Elevated circulat... ORPHA:226316
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Thyroid Dyshormonogenesis 1
Goiter, Hypothyroidism OMIM:274400
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Respiratory failure, Focal T2 hyperintense thalamic lesion, Neonatal respirator... OMIM:619057
Axial Mesodermal Dysplasia Spectrum
Morphological abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the lungs, Abnorma... ORPHA:1834
Pituitary Stalk Interruption Syndrome
Hypothyroidism, Septo-optic dysplasia, Abnormality of the hypothalamus-pituitary axis, Diabetes i... ORPHA:95496
Hyperthyroidism, Nonautoimmune
Goiter, Thyroid hyperplasia, Hyperthyroidism OMIM:609152
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Anterior pituitary hypoplasia, Decreased serum insulin-like growth factor 1, Hypoplasia of the co... ORPHA:67045
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Cerebral cortical atrophy, Hypoplasia of the corp... OMIM:616081
Glutaric Aciduria Iii
Goiter, Hyperthyroidism OMIM:231690
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency ORPHA:2111
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Craniopharyngioma
Central diabetes insipidus, Abnormal hypothalamus morphology, Cerebral calcification, Hypogonadot... ORPHA:54595
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Impaired sensitivity to thyroid stimulating hormone, Congenita... ORPHA:90673
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Bronchiectasis, Re... OMIM:618781
Infantile Myofibromatosis
Tracheoesophageal fistula, Neoplasm of the lung, Abnormal intestine morphology, Intestinal obstru... ORPHA:2591
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Papillary thyroid carcinoma, Nodular goiter ORPHA:97290
Hereditary Mucoepithelial Dysplasia
Abnormal morphology of female internal genitalia, Tracheoesophageal fistula, Anorectal anomaly, R... ORPHA:1839
Pulmonary Hemosiderosis
Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Interstitial ... ORPHA:723
Thyroid Lymphoma
Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Dyspnea, Upper airway obstruction, Strido... ORPHA:97285
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Nasal polyposis, Recurrent bronchitis, Bronchiectasis, Chronic sinusitis OMIM:604571
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pulmonary hypoplasia OMIM:224410
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Bangstad Syndrome
Goiter, Primary gonadal insufficiency, Cerebral hypoplasia, Insulin-resistant diabetes mellitus OMIM:210740
Amenorrhea-Galactorrhea Syndrome
Pituitary adenoma OMIM:104600
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98754
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Holoprosencephaly 2
Bifid uvula, Diabetes insipidus, Agenesis of corpus callosum, Adrenal hypoplasia, Microcephaly, S... OMIM:157170
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Delpire-Mcneill Syndrome
Dysphagia, Tracheoesophageal fistula, Agenesis of corpus callosum, Cortical dysplasia OMIM:619083
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary OMIM:613986
Encephalopathy Due To Prosaposin Deficiency
Recurrent respiratory infections, Death in infancy, Respiratory insufficiency ORPHA:139406
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98793
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:616867
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Intrauterine growth retardation, Intestinal malrotation, Pancr... ORPHA:2255
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177904
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Chronic rhinitis, Rhinorrhea, Bronchiectasis, Goiter, Wheezing OMIM:617577
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177901
Hyperthyroidism, Familial Gestational
Hyperthyroidism, Decreased thyroid-stimulating hormone level, Increased circulating T4 level OMIM:603373
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Respiratory tract infection, Atelectasis, N... ORPHA:70587
Holoprosencephaly 9
Abnormal cortical gyration, Anterior pituitary hypoplasia, Panhypopituitarism, Cryptorchidism, Mi... OMIM:610829
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Respiratory failure, Microcephaly, Rec... OMIM:609981
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Alg3-Cdg
High palate, Abnormality of the gastrointestinal tract, Abnormal cerebral morphology, Cerebral wh... ORPHA:79321
Maternal Uniparental Disomy Of Chromosome 2
Hypothyroidism, Chordee, Intrauterine growth retardation, Miscarriage, Bilateral cryptorchidism, ... ORPHA:96179
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Opitz gbbb syndrome, type II
Hiatus hernia, High palate, Absent gallbladder, Bifid uvula, Agenesis of corpus callosum, Aspirat... OMIM:145410
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal thickening, Exertional dysp... OMIM:614370
Autoimmune Polyendocrinopathy Type 3
Central diabetes insipidus, Hashimoto thyroiditis, Graves disease, Anterior pituitary dysgenesis,... ORPHA:227982
Culler-Jones Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Cryptorchidism, Hypopituitarism, Ectopic poste... OMIM:615849
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Emphysema, Recurrent upper respiratory tract infectio... ORPHA:95430
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Permanent Congenital Hypothyroidism
Goiter, Hypothyroidism, Thyroid dysgenesis ORPHA:226292
Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:398073
Primary Pulmonary Hypoplasia
Restrictive ventilatory defect, Hypoxemia, Asthma, Abnormal breath sound, Neonatal respiratory di... ORPHA:2257
Acute Lung Injury
Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Tachypnea, Respiratory failure, Dyspnea, Respi... ORPHA:178320
Atelosteogenesis, Type Ii
Respiratory insufficiency, Death in infancy, Stillbirth, Pulmonary hypoplasia OMIM:256050
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Abnormality of circulating adrenocorti... ORPHA:251623
Acute Interstitial Pneumonia
Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Tachypnea, R... ORPHA:79126
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Nasal p... OMIM:618695
Esophageal Atresia
Aspiration, Gastrointestinal dysmotility, Abnormal external genitalia, Anorectal anomaly, Dysphag... ORPHA:1199
Rhombencephalosynapsis
Fusion of the left and right thalami, Septo-optic dysplasia, Tracheoesophageal fistula, Aganglion... ORPHA:59315
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Abnormal spermatogenesis, ... OMIM:228300
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia OMIM:236640
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Ce... OMIM:301033
Autoimmune Polyendocrinopathy Type 4
Central diabetes insipidus, Anterior pituitary dysgenesis, Xerostomia, Celiac disease, Thymoma, H... ORPHA:227990
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hyperthyroidism OMIM:613239
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Cryptorchidism, Micropenis, Microcephaly, Dysphagia, Hypospadias, P... OMIM:300978
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Hypoxemia, Elevated bronchoalveolar lavage fluid lymph... OMIM:612387
Renal Tubular Dysgenesis
Respiratory insufficiency, Pulmonary hypoplasia OMIM:267430
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Abnormal sperm morphology, Female hypogon... ORPHA:52901
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia OMIM:616733
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronch... OMIM:615451
Ascher Syndrome
Goiter, Hypothyroidism ORPHA:1253
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin leve... ORPHA:171706
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory failure, Reduced vital capacity, Respiratory ... ORPHA:266
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Abnormal central microtubular pair morphology of respiratory motile cilia, Chroni... OMIM:612649
Ane Syndrome
Hypogonadotropic hypogonadism, Abnormal response to ACTH stimulation test, Delayed puberty, Anter... ORPHA:157954
Vacterl With Hydrocephalus
Intrauterine growth retardation, Cryptorchidism, Tracheoesophageal fistula, Anal atresia, Esophag... ORPHA:3412
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
17Q12 Microduplication Syndrome
Tracheoesophageal fistula, Cleft palate, Cortical dysplasia ORPHA:261272
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Asthma, Nasal p... OMIM:616037
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism OMIM:188580
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Decreased nasal... OMIM:615505
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormality of the basal ganglia, Intrauterine growth retardation, Microcephaly, Lissencephaly, P... ORPHA:86822
Methimazole Embryofetopathy
Hypothyroidism, Intrauterine growth retardation, Abnormality of the thyroid gland, Tracheoesophag... ORPHA:1923
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Recurrent respiratory infections, Respiratory insufficiency ORPHA:2432
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness, Cerebral cortical atrophy,... OMIM:618291
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cerebral atrophy, Cryptorchidism, Respiratory failure, Microcephaly, Respiratory insufficiency du... OMIM:611890
Aphalangy With Hemivertebrae
Pulmonary hypoplasia OMIM:207620
Dystonia 30
Globus pallidus hypointensity on susceptibility-weighted imaging, Hypothalamic hamartoma, Diffuse... OMIM:619291
Czeizel-Losonci Syndrome
Hypoplastic nipples, Tracheoesophageal fistula, Pulmonary hypoplasia, High palate ORPHA:2437
Familial Gestational Hyperthyroidism
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Activating thyroid-stimulating hormone recep... ORPHA:99819
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Microcephaly, Hypogonadotropic hypogonadism, Tracheoesophageal fistula, Hypoplasia of penis ORPHA:3068
Pendred Syndrome
Goiter, Thyroid carcinoma, Hypothyroidism, Hyperparathyroidism ORPHA:705
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:453533
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Cerebral edema, Sinusitis, Pneumonia, Abnormality of the basal ... ORPHA:68
Laryngeal Abductor Paralysis
Respiratory insufficiency ORPHA:2808
Pontocerebellar Hypoplasia, Type 4
Microcephaly, Death in infancy, Respiratory failure OMIM:225753
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Pulmonary hypoplasia, Testicular atrophy OMIM:601163
Opitz Gbbb Syndrome
Abnormal corpus callosum morphology, Tracheomalacia, Cryptorchidism, Microcephaly, Dysphagia, Cle... ORPHA:2745
Achondrogenesis Type 2
Cardiorespiratory arrest, Pulmonary hypoplasia ORPHA:93296
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Respiratory failure, Respiratory insufficiency, Microcephaly, Neonatal death, A... OMIM:610127
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Reduced radioactive iodine uptake, Congenital hypothyroidism... ORPHA:95716
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothyroidism, Thyroid agenesis, Congenital hypothyroidism, Elevated circulating thyroid-stimula... OMIM:218700
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Neonatal re... OMIM:616481
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Respiratory insufficiency OMIM:618042
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon, Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation... ORPHA:2570
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Agenesis of corpus callosum, Cavum septum pellucidum, Asthma, Abnormality of... ORPHA:209905
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary pneumatocele, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure... ORPHA:36238
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheoma... ORPHA:60032
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory insufficiency, Respiratory failure OMIM:228940
Lissencephaly Type Iii And Bone Dysplasia
Pulmonary hypoplasia OMIM:601160
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasi... OMIM:615294
Schisis Association
Anencephaly, Tracheoesophageal fistula, Anal atresia, Microcephaly, Cleft palate ORPHA:63862
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
High palate, Agenesis of corpus callosum, Cryptorchidism, Micropenis, Supernumerary nipple, Tricu... OMIM:618929
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weakness, Respi... ORPHA:254875
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Cerebral atrophy, Respiratory failure OMIM:618637
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Decreased nasal... OMIM:615504
Graves Disease, Susceptibility To, 1
Goiter, Graves disease OMIM:275000
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Reduced radioactive iodine uptake, ... ORPHA:90674
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Hiatus hernia, Rectovaginal fistula, Agenesis of corpus callosum, Mic... ORPHA:2538
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Activating thyroid-stimulating hormone recep... ORPHA:424
Minicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Respiratory insufficiency, Pulmonary hypoplasia OMIM:255320
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Agenesis of corpus callosum, Microcephaly, Volvulus, Abnormalit... ORPHA:314621
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory insufficiency, Respiratory failure OMIM:605711
3-Methylglutaconic Aciduria, Type Viii
Apnea, Cerebral atrophy, Respiratory failure, Hypoplasia of the corpus callosum, Death in infancy... OMIM:617248
Igg4-Related Thyroid Disease
Hypothyroidism, Thyrotoxicosis with diffuse goiter, Euthyroid goiter, Hashimoto thyroiditis, Grav... ORPHA:64744
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Diffuse alveolar hemorrhage, Reticular pattern on pulmonary HRCT,... ORPHA:99931
Maffucci Syndrome
Neoplasm of the adrenal cortex, Parathyroid adenoma, Ovarian neoplasm, Pituitary adenoma, Goiter,... ORPHA:163634
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Stillbirth, Pulmonary hypoplasia OMIM:236500
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Intrauterine growth retardation, Uterus didelphys,... ORPHA:958
Heparin-Induced Thrombocytopenia
Increased serum serotonin, Pulmonary embolism, Cerebral ischemia, Myocardial infarction ORPHA:3325
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respiratory ins... OMIM:614874
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Neonatal respirator... OMIM:300991
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia OMIM:602088
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Agenesis of corpus callosum, Cryptorchidism, Tracheoesophageal fistula, Hypoplasia of penis, Esop... ORPHA:77298
Lethal Osteosclerotic Bone Dysplasia
Microcephaly, Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Dyskeratosis Congenita
Cerebral calcification, Oral leukoplakia, Intrauterine growth retardation, Abnormal morphology of... ORPHA:1775
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:226307
Jung Syndrome
Hypothyroidism, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Recurrent respiratory in... ORPHA:2321
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Wolfram-Like Syndrome
Central diabetes insipidus, Primary gonadal insufficiency, Hypothyroidism, Male hypogonadism, Dia... ORPHA:411590
Ciliary Dyskinesia, Primary, 3
Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infection... OMIM:608644
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress, Pulmonary e... OMIM:267450
Scedosporiosis
Abnormal respiratory system physiology, Sinusitis, Pneumonia, Bronchial breath sound, Respiratory... ORPHA:449280
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated bronchoalveolar lavage fluid neutrophil proportion, Hypoxemia, Crackles, Tachypnea, Cong... OMIM:610978
Congenital Tracheal Stenosis
Abnormal stomach morphology, Morphological abnormality of the gastrointestinal tract, Abnormal tr... ORPHA:141127
Congenital Neuronal Ceroid Lipofuscinosis
Agenesis of corpus callosum, Respiratory failure, Central sleep apnea, Microcephaly, Pachygyria, ... ORPHA:168486
Serkal Syndrome
Sex reversal, Malrotation of small bowel, Abnormal penis morphology, Pulmonic stenosis, Abnormali... ORPHA:139466
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615500
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion ORPHA:73267
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:1548
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia OMIM:617468
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Respiratory failure, Microcephaly, Cerebral cortical atrophy, Abnormal periventri... ORPHA:370968
Adult Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Respiratory failure, Dyspnea, Abnormal blood gas level, Pulmonary edema ORPHA:70578
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Chronic bronchitis, Abnormal axonemal organization of respiratory motile cil... OMIM:613808
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Abnormal lung lobation, Cleft palate, Pulmonary insufficiency, Intestinal malrotation, Tracheoeso... OMIM:265380
Primary Ciliary Dyskinesia
Airway obstruction, Chronic rhinitis, Respiratory failure, Chronic sinusitis, Respiratory tract i... ORPHA:244
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Pituitary carcinoma, Di... ORPHA:300385
Toxic Epidermal Necrolysis
Intestinal perforation, Restrictive ventilatory defect, Gastrointestinal hemorrhage, Abnormal vag... ORPHA:537
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Hypoxemia, Pulmonary hypoplasia, Pulmonary sequestration ORPHA:2847
Non-Acquired Panhypopituitarism
Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Infertility, Delayed puberty, An... ORPHA:90695
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Respiratory failure, Respiratory insufficiency OMIM:600333
Marden-Walker Syndrome
High palate, Agenesis of corpus callosum, Intrauterine growth retardation, Cryptorchidism, Microp... OMIM:248700
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Boomerang Dysplasia
Cryptorchidism, Decreased response to growth hormone stimulation test, Aplasia/Hypoplasia of the ... ORPHA:1263
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Renal Agenesis, Bilateral
Abnormal morphology of female internal genitalia, Tracheoesophageal fistula, Abnormal intestine m... ORPHA:1848
Martinez-Frias Syndrome
Intrauterine growth retardation, Intestinal hypoplasia, Intestinal malrotation, Pancreatic hypopl... OMIM:601346
Acromelic Frontonasal Dysplasia
Median cleft palate, Agenesis of corpus callosum, Anterior pituitary hypoplasia, Cryptorchidism, ... ORPHA:1827
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Pulmonary hypoplasia OMIM:615415
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Cerebral atrophy, Neonatal respiratory distress, Respiratory failure, Respiratory insufficiency, ... OMIM:245400
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Irregular menstruation, Primary amenorrhea, Elevated circulating l... ORPHA:90793
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Calcification of cartilage, Abnormal bronchus morphology, Atelect... ORPHA:3348
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating luteinizing hormone level, Decreased circulating follicle stimulating hormo... OMIM:619755
Congenital Disorder Of Glycosylation, Type Iiq
Secondary microcephaly, Small pituitary gland, Diffuse cerebral atrophy, Hypoplasia of the corpus... OMIM:617395
Fetal Akinesia Deformation Sequence
Intrauterine growth retardation, Intestinal hypoplasia, Cryptorchidism, Respiratory insufficiency... ORPHA:994
Medullary Thyroid Carcinoma
Elevated calcitonin, Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, ... ORPHA:1332
Chronic Granulomatous Disease
Sinusitis, Tracheoesophageal fistula, Recurrent respiratory infections, Chronic pulmonary obstruc... ORPHA:379
Hyperekplexia 4
Cerebral atrophy, Respiratory failure OMIM:618011
Ciliary Dyskinesia, Primary, 9
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchiectasis, Ciliary dyskine... OMIM:612444
Surfactant Metabolism Dysfunction, Pulmonary, 4
Restrictive ventilatory defect, Reduced forced expiratory volume in one second, Intraalveolar pho... OMIM:300770
Pallister-Hall Syndrome
Hypothalamic hamartoma, Intrauterine growth retardation, Cryptorchidism, Panhypopituitarism, Decr... OMIM:146510
Multiple Mitochondrial Dysfunctions Syndrome 3
Cerebral atrophy, Respiratory failure, Microcephaly, Hypoplasia of the corpus callosum, Respirato... OMIM:615330
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Hypospadias, Pulmonary artery atresia, Pulmonary hypoplasia OMIM:618316
Thanatophoric Dysplasia
Respiratory insufficiency, Pulmonary hypoplasia ORPHA:2655
Caudal Regression Syndrome
Cryptorchidism, Anal atresia, Hypertension, Ambiguous genitalia, Maternal diabetes, Pulmonary hyp... ORPHA:3027
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis, Decreased DLCO OMIM:618913
Ciliary Dyskinesia, Primary, 34
Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Recurrent bronchitis, Recurrent s... OMIM:617091
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Congenital hypothyroidism, Decreased circulating T4 level, Elevated circulating thyroid-stimulati... ORPHA:226313
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Decreased circulating osteocalcin level OMIM:125700
Matthew-Wood Syndrome
Intrauterine growth retardation, Cryptorchidism, Abnormality of the uterus, Duodenal stenosis, An... ORPHA:2470
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Chronic bronchitis, Abnormal axonemal organization of respiratory motile cil... OMIM:613807
Deeah Syndrome
Exocrine pancreatic insufficiency, Decreased heart rate variability, High palate, Narrow palate, ... OMIM:619004
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Hypophosphatasia
Emphysema, Respiratory insufficiency ORPHA:436
Cowden Syndrome 7
Hashimoto thyroiditis, Goiter, Papillary thyroid carcinoma, Ductal carcinoma in situ OMIM:616858
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Leukoencephalopathy, Abnormality of thalamus morphology, Hypergonadotropic hypogonadism OMIM:613724
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Submucous cleft hard palate, Hypergonadotropic hypogonadism, Cleft palate, Pulmon... ORPHA:250999
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory insufficiency, Respiratory failure, Respiratory distress, Restrictive ventilatory defect OMIM:614399
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ovotestis, Intrauterine growth retardation, Adrenal gland agenesis, Bilateral lung agenesis, Pulm... OMIM:611812
Carney Complex, Type 1
Thyroid follicular hyperplasia, Elevated circulating growth hormone concentration, Pheochromocyto... OMIM:160980
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Hypothyroidism, Abnormal cerebral white matter morphology, Goiter ORPHA:83601
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Microcephaly, Bicornuate uterus, Pulmonary hypoplasia OMIM:263210
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Cerebral calcification, Intestinal malrotation, Intrauterine growth retardation, Pulmonary hypopl... ORPHA:3035
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Respiratory insufficiency, Tracheoesophageal fistula, Intestinal atresia ORPHA:93941
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:1046
Pituitary Adenoma 1, Multiple Types
Increased serum insulin-like growth factor 1, Pituitary prolactin cell adenoma, Prolactinoma, Inc... OMIM:102200
Dysplastic Cortical Hyperostosis
Aplasia/Hypoplasia of the lungs ORPHA:2204
Penile Agenesis
Rectal fistula, Urethral atresia, male, Urethral fistula, Cryptorchidism, Tracheoesophageal fistu... ORPHA:49
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Interstitial emphysema, Hyperintensity of cerebral white matter on MRI, Bro... OMIM:619708
Mccune-Albright Syndrome
Abnormal endocrine physiology, Decreased fertility, Irregular menstruation, Goiter, Increased ser... ORPHA:562
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Abnormal substantia nigra morphology, Hyperintensity of cerebral white m... ORPHA:2822
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Intestinal malrotation, Tracheoesophageal fistula, Aganglionic megacolon, Ana... ORPHA:210122
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Immunodeficiency 89 And Autoimmunity
Pleural thickening, Decreased eosinophil count, Asthma, Bronchiectasis, Pulmonary bulla, Recurren... OMIM:619632
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Tracheoesophageal fistula, Esophageal atresia, Pectus excavatum, Microcephaly, Submucous cleft ha... OMIM:619227
Odontochondrodysplasia 1
Recurrent respiratory infections, Respiratory distress, Death in infancy, Pulmonary hypoplasia OMIM:184260
Mounier-Kühn Syndrome
Pneumonia, Tracheobronchmegaly, Recurrent respiratory infections, Tracheal stenosis, Recurrent br... ORPHA:3347
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615444
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Intrauterine growth retardation, Micropenis, Hypertrophic cardiomyopathy, Pleural effusion, Micro... OMIM:616897
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume, Abnormality of the basal ganglia, Hypoplasia of the olfactory bulb OMIM:618646
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Agenesis of corpus callosum, Cryptorchidism, Anencephaly, Penoscrotal transposition,... OMIM:619148
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
Genitopatellar Syndrome
Small scrotum, Agenesis of corpus callosum, Cryptorchidism, Gastroesophageal reflux, Microcephaly... ORPHA:85201
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Stillbirth, Agenesis of corpus callosum, Intrauterine growth retardat... OMIM:236680
Microphthalmia, Syndromic 5
Cryptorchidism, Ectopic posterior pituitary, Cleft palate, Micropenis OMIM:610125
Isolated Exencephaly
Maternal diabetes, Posterior pituitary agenesis, Agenesis of corpus callosum, Anterior pituitary ... ORPHA:563612
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Death in infancy, Respiratory failure OMIM:619386
Prader-Willi Syndrome Due To Translocation
High palate, Hypogonadotropic hypogonadism, Bifid uvula, Intrauterine growth retardation, Anterio... ORPHA:177907
Coasy Protein-Associated Neurodegeneration
Abnormal caudate nucleus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal globus... ORPHA:397725
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:614299
Tetrasomy 5P
High palate, Congestive heart failure, Pericallosal lipoma, Pectus excavatum, Pulmonary arterial ... ORPHA:3309
Central Precocious Puberty
Premature thelarche, Hypothalamic hamartoma, Increased circulating gonadotropin level, Isosexual ... ORPHA:759
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypnea, Pulmonary arterial ... ORPHA:217563
Pulmonary Alveolar Microlithiasis
Nonproductive cough, Restrictive ventilatory defect, Pleural thickening, Hypoxemia, Oxygen desatu... ORPHA:60025
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Cough,... OMIM:178500
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Recurrent respiratory infections, Respiratory failure, Respiratory distress, Dyspnea ORPHA:2759
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Protruding tongue, Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Adrena... OMIM:214100
Treacher-Collins Syndrome
High palate, Rectovaginal fistula, Small scrotum, Multiple enchondromatosis, Cryptorchidism, Trac... ORPHA:861
49,Xxxxy Syndrome
Infertility, Small scrotum, Cryptorchidism, Azoospermia, Asthma, Pulmonary embolism, Decreased te... ORPHA:96264
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Congestive heart failure, Pulmonary embolism, Microcephaly, Abnormal... ORPHA:90308
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Leukoencephalopathy, Respiratory failure, Central hypoventilation OMIM:618233
Fryns Syndrome
High palate, Ectopic anus, Agenesis of corpus callosum, Cryptorchidism, Intestinal malrotation, G... ORPHA:2059
Thakker-Donnai Syndrome
Rectovaginal fistula, Intrauterine growth retardation, Agenesis of corpus callosum, Tracheoesopha... ORPHA:1780
Diaphanospondylodysostosis
Tracheomalacia, Intrauterine growth retardation, Respiratory distress, Respiratory insufficiency,... OMIM:608022
Agnathia-Otocephaly Complex
Aglossia, Tracheomalacia, Agenesis of corpus callosum, Microglossia, Respiratory distress, Cleft ... OMIM:202650
Fanconi Anemia, Complementation Group D2
Agenesis of corpus callosum, Cryptorchidism, Micropenis, Tracheoesophageal fistula, Esophageal at... OMIM:227646
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Hypogonadotropic hypogonadism, Agenesis of corpus callosum, Anterior pitu... OMIM:206900
Neu-Laxova Syndrome
Abnormal cortical gyration, Cerebral calcification, Bifid uvula, Intrauterine growth retardation,... ORPHA:2671
Autosomal Recessive Multiple Pterygium Syndrome
High palate, Morphological abnormality of the gastrointestinal tract, Small scrotum, Intrauterine... ORPHA:2990
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Fanconi Anemia
Cryptorchidism, Decreased fertility in males, Abnormality of the uterus, Microcephaly, Duodenal s... ORPHA:84
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Meier-Gorlin Syndrome 7
High palate, Progressive microcephaly, Anal stenosis, Cryptorchidism, Micropenis, Hypospadias, An... OMIM:617063
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Simplif... OMIM:251230
Joubert Syndrome 38
Small pituitary gland, Decreased response to growth hormone stimulation test, Ectopic posterior p... OMIM:619476
Fanconi Anemia, Complementation Group L
Intrauterine growth retardation, Micropenis, Tracheoesophageal fistula, Anal atresia, Esophageal ... OMIM:614083
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Decreased testicular size OMIM:614880
Avian Influenza
Nonproductive cough, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Pleural effusion, Coug... ORPHA:454836
Multiple Endocrine Neoplasia, Type Iv
Hypothyroidism, Hashimoto thyroiditis, Parathyroid adenoma, Elevated circulating growth hormone c... OMIM:610755
Atelosteogenesis Type I
Malrotation of colon, Laryngotracheal stenosis, Abnormal pancreatic duct morphology, Cleft palate... ORPHA:1190
Locked-In Syndrome
Recurrent respiratory infections, Respiratory insufficiency ORPHA:2406
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Pancreatic cysts, Esophageal varix, Hypertension, Neonatal death, Pulmonary ... OMIM:263200
Panhypophysitis
Orthostatic hypotension, Abnormality of the posterior pituitary, Panhypopituitarism, Hashimoto th... ORPHA:95513
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis, Decreased response to growth hormone stimulation test, Hypoplasia of penis, Co... OMIM:601427
Charge Syndrome
Hypothyroidism, Cryptorchidism, External genital hypoplasia, Microcephaly, Dysphagia, Decreased r... OMIM:214800
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Cerebral atrophy, Episodic tachypnea, Focal T2 hyperintense thalamic lesion, Focal T2 hype... ORPHA:79264
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Respiratory distress, Pulmonary hypoplasia OMIM:231680
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Jeune Syndrome
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:474
Meckel Syndrome, Type 6
Absent gallbladder, Bile duct proliferation, Anencephaly, Abnormal internal genitalia, Pulmonary ... OMIM:612284
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Sleep apnea, D... ORPHA:300373
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Orthostatic hypotension, Decreased fem... ORPHA:95512
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Panhypopituitarism, Erectile dysfunction, Central adr... ORPHA:91349
Dyrk1A-Related Intellectual Disability Syndrome
Intrauterine growth retardation, Anterior pituitary hypoplasia, Aortic regurgitation, Cryptorchid... ORPHA:464306
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs ORPHA:1027
Tsh-Secreting Pituitary Adenoma
Infertility, Irregular menstruation, Euthyroid hyperthyroxinemia, Erectile dysfunction, Central a... ORPHA:91347
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Dyspnea, Microcephaly, Respiratory insufficiency due to muscle weakness, Hyp... ORPHA:352447
Charge Syndrome
Hypogonadotropic hypogonadism, Intrauterine growth retardation, Cryptorchidism, Abnormal morpholo... ORPHA:138
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Microcephaly, Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Posterior pituitary hypoplasia, Abnormality of the anterior pituitary, Intrauterine growth retard... ORPHA:75389
Bilateral Perisylvian Polymicrogyria
Perisylvian predominant thick cortex pachygyria, Bilateral perisylvian polymicrogyria, Intrauteri... ORPHA:98889
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis OMIM:242700
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Miscarriage, Microcephaly, Respiratory insufficiency, Cleft palate, Pulmonary hyp... ORPHA:1865
Orofaciodigital Syndrome Type 4
Primary adrenal insufficiency, Bifid uvula, High, narrow palate, Microcephaly, Cleft palate, Decr... ORPHA:2753
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Cerebral cortical atrophy,... OMIM:618193
Neurodevelopmental Disorder With Seizures And Brain Atrophy
High palate, Microcephaly, Decreased thalamic volume, Simplified gyral pattern, Cerebral cortical... OMIM:619072
Lethal Congenital Contracture Syndrome 10
High palate, Intrauterine growth retardation, Hypoplasia of the thymus, Narrow palate, Pulmonary ... OMIM:617022
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal cerebral morphology, Respiratory failure, Central sleep apnea, Obstructive sleep apnea, ... ORPHA:70472
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Tracheoesophageal fistula, Anal atresia, Urethral atresia OMIM:314390
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Tarp Syndrome
Tongue nodules, Abnormal corpus callosum morphology, Intrauterine growth retardation, Abnormal du... ORPHA:2886
Autoimmune Polyendocrinopathy Type 1
Cerebral calcification, Primary adrenal insufficiency, Abnormal calcium-phosphate regulating horm... ORPHA:3453
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Feingold Syndrome 1
High palate, Tracheoesophageal fistula, Esophageal atresia, Microcephaly, Annular pancreas, Duode... OMIM:164280
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Respiratory failure, Microcephaly, Cer... ORPHA:1194
Pagod Syndrome
Pulmonary artery hypoplasia, Arrhythmia, Abnormal morphology of female internal genitalia, Sudden... ORPHA:991
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Elevated jugular venous pressure, Abnormally loud pulmonic component of the second heart sound, P... OMIM:265450
Prune Belly Syndrome
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Intestinal malrotation, Anal atresia, Abnormalit... ORPHA:2970
Williams Syndrome
Hypothyroidism, Cryptorchidism, Colonic diverticula, Macroglossia, Microcephaly, Rectal prolapse,... ORPHA:904
Scimitar Syndrome
Bronchogenic cyst, Pulmonary artery hypoplasia, Partial anomalous pulmonary venous return, Cough,... ORPHA:185
Snakebite Envenomation
Hypopituitarism, Respiratory paralysis, Respiratory failure, Epistaxis ORPHA:449285
Renal Dysplasia-Limb Defects Syndrome
Respiratory failure, Pneumothorax, Respiratory distress, Neonatal death, Pulmonary hypoplasia OMIM:266910
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Aplasia/Hypoplasia of the lungs, Agenesis of corpus callosum, Cryptorchidi... ORPHA:3301
Meconium Aspiration Syndrome
Intrauterine growth retardation, Hypoxemia, Pulmonary insufficiency, Atelectasis, Pulmonary arter... ORPHA:70588
48,Xxxy Syndrome
Infertility, Small scrotum, Cryptorchidism, Azoospermia, Asthma, Pulmonary embolism, Gastroesopha... ORPHA:96263
Microgastria-Limb Reduction Defects Association
Absent gallbladder, Fusion of the left and right thalami, Splenogonadal fusion, Agenesis of corpu... OMIM:156810
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Decreased circulating cortisol level, Abnormality of female external genitalia, Male p... ORPHA:90790
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Mild intrauterine growth retardation, Adrenal hypoplasia, Thyroid hypoplasia, Stillbirth, Pulmona... OMIM:308050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebral atrophy, High palate, Anal stenosis, Gastroesophageal reflux, Anal atresia, Hydrocele te... OMIM:614080
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia OMIM:312150
Thymic Neuroendocrine Tumor
Pituitary prolactin cell adenoma, Abnormal breath sound, Primary hyperparathyroidism, Cough, Incr... ORPHA:97289
Ciliary Dyskinesia, Primary, 38
Cough, Bronchiectasis, Rhinitis, Absent inner and outer dynein arms, Neonatal respiratory distres... OMIM:618063
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral calcification, Hematochezia, Intestinal perforation, Morphological abnormality of the ga... ORPHA:464321
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic rhinitis, Neonatal respiratory distress, Br... OMIM:618699
X-Linked Intellectual Disability, Snyder Type
Cerebral edema, High palate, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy,... ORPHA:3063
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Paroxysmal dyspnea, Stridor, Abnormal basal ganglia MRI signal intensity, Ab... ORPHA:444013
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory tract infect... ORPHA:308552
Leigh Syndrome
Focal substantia nigra T2 hyperintensity, Respiratory failure, Abnormal pattern of respiration, R... OMIM:256000
Meacham Syndrome
Stillbirth, Scimitar anomaly, Partial anomalous pulmonary venous return, Death in childhood, Neon... OMIM:608978
Phocomelia, Schinzel Type
Aplasia of the uterus, Intrauterine growth retardation, Cryptorchidism, Tracheoesophageal fistula... ORPHA:2879
Primary Pigmented Nodular Adrenocortical Disease
Irregular menstruation, Abnormal libido, Testicular neoplasm, Increased urinary cortisol level, P... ORPHA:189439
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebral atrophy, Respiratory failure, Abnormal periventricular white matter morphology, Hypoplas... OMIM:615838
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Cough, Dyspnea, Pulmonary arterial hypertension, Pulmonary v... OMIM:234810
Short-Rib Thoracic Dysplasia 12
Intrauterine growth retardation, Intestinal malrotation, Anencephaly, Lobulated tongue, Respirato... OMIM:269860
Gaucher Disease, Perinatal Lethal
Intrauterine growth retardation, Microcephaly, Dysphagia, Respiratory distress, Neonatal death, A... OMIM:608013
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Meckel Syndrome, Type 1
Agenesis of corpus callosum, Intrauterine growth retardation, Cryptorchidism, Bile duct prolifera... OMIM:249000
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Medullary thyroid carcinoma, Parathyroid adenoma, Pheochromocytoma, H... OMIM:171400
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Intrauterine growth retardation, Cryptorchidism, Bilateral lung ag... OMIM:601186
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Respiratory distress, Dyspnea ORPHA:330021
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Hypopituitarism, Increased circulating prolactin concentration, Adren... ORPHA:91354
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:2725
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Neonatal respiratory distress, Respiratory failure requiring assisted ventilation... OMIM:310400
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:253290
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Hypothyroidism, Cryptorchidism, Thyroid agenesis, Thyroid dysgenesis, Microcephaly, Ectopic thyro... ORPHA:3047
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Tracheomalacia, Pulmonary artery stenosis, Pulmonary hypoplasia OMIM:613177
Congenital Contractural Arachnodactyly
High palate, Intestinal malrotation, Tracheoesophageal fistula, Duodenal atresia ORPHA:115
Combined Oxidative Phosphorylation Deficiency 4
Microcephaly, Death in infancy, Polymicrogyria, Respiratory failure OMIM:610678
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Cowden Syndrome 5
Hypothyroidism, Hyperthyroidism, Ovarian cyst, Thyroiditis, Goiter, Hydrocele testis, Thyroid ade... OMIM:615108
Tetraploidy
Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs, Microcephaly, Aplasia/Hypoplasi... ORPHA:3305
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Respiratory insufficiency, Death in infa... ORPHA:1120
Laryngotracheoesophageal Cleft
Aspiration, Cough, Dyspnea, Recurrent respiratory infections, Stridor, Neonatal respiratory distress ORPHA:2004
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Pulmonary hypoplasia OMIM:616866
Pentalogy Of Cantrell
Absent gallbladder, Anencephaly, Cleft palate, Hypospadias, Pulmonary hypoplasia ORPHA:1335
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Abnormal cortical gyration, Polymicrogyria, Microcephaly OMIM:619602
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure OMIM:273730
Poems Syndrome
Hypothyroidism, Primary adrenal insufficiency, Restrictive ventilatory defect, Erectile dysfuncti... ORPHA:2905
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
14Q22Q23 Microdeletion Syndrome
Small scrotum, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Agenesis of co... ORPHA:264200
Teebi Hypertelorism Syndrome 1
Bicornuate uterus, Shawl scrotum, Hydrocele testis, Pulmonary hypoplasia OMIM:145420
Mosaic Trisomy 1
Penile hypospadias, Agenesis of corpus callosum, Micropenis, Pulmonary artery atresia, Polymicrog... ORPHA:1692
Joubert Syndrome 21
Apnea, Pulmonary hypoplasia, Dyspnea OMIM:615636
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Abnormality of the parathyroid gland, Aplasia/Hypoplasia of the lungs, Cleft palate ORPHA:3429
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Respiratory failure, Tachypnea, Pleural effusion, Pulmonary edema ORPHA:542323
Severe Neurodegenerative Syndrome With Lipodystrophy
Cerebral atrophy, Respiratory failure, Caudate atrophy, Hyperinsulinemia ORPHA:363400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Intestinal malrotation, Tricuspid regurgitation, Hamartoma of tongue, Microglossia, P... OMIM:263520
Cowden Syndrome 1
High palate, Hypothyroidism, Varicocele, Hyperthyroidism, Colonic diverticula, Ovarian carcinoma,... OMIM:158350
Raine Syndrome
Cerebral calcification, High palate, Pectus excavatum, Microcephaly, Neonatal death, Protruding t... OMIM:259775
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Primary amenorrhea, Male pseudohermaphroditism, Hypertension, Ambiguous g... OMIM:202110
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Panhypopituitarism, Decreased circulat... ORPHA:95619
Sim1-Related Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Central sleep apnea, Ext... ORPHA:398079
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification OMIM:618824
Fraser Syndrome
High palate, Ectopic anus, Small scrotum, Anal stenosis, Cryptorchidism, Abnormal vagina morpholo... ORPHA:2052
Thyroid Ectopia
Ectopic thyroid, Hypothyroidism, Abnormality of the thyroid gland ORPHA:95712
Lymphoid Interstitial Pneumonia
Restrictive ventilatory defect, Hypoxemia, Subpleural interstitial thickening, Crackles, Respirat... ORPHA:79128
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Death in infancy, Leukoencephalopathy, Cerebral edema, Respiratory failure OMIM:617186
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Respiratory failure ORPHA:3226
Fetal Akinesia Deformation Sequence 1
High palate, Intrauterine growth retardation, Cryptorchidism, Cavum septum pellucidum, High, narr... OMIM:208150
Distal Tetrasomy 15Q
High palate, Intrauterine growth retardation, Abnormal external genitalia, Hydrocele testis, Pulm... ORPHA:314588
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Lobulated tongue, Respiratory insufficiency, Anal atresia, Ambiguous genitalia, C... OMIM:616300
Fryns Syndrome
Chylothorax, Stillbirth, Agenesis of corpus callosum, Cryptorchidism, Intestinal malrotation, Sha... OMIM:229850
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Hypertension, Adrenal hyperplasia, Secreto... ORPHA:403
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, In... ORPHA:90060
Ulnar-Mammary Syndrome
Small scrotum, Anterior pituitary hypoplasia, Arrhythmia, Micropenis, Anal stenosis, Shawl scrotu... OMIM:181450
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Intestinal malrotation, Tracheoesophageal fistula, Abnormal internal genitalia, Anal atresia, Dis... ORPHA:2973
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Pulmonary hypoplasia OMIM:608149
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hypospadias OMIM:201910
Achondrogenesis
Aplasia/Hypoplasia of the lungs ORPHA:932
Cowden Syndrome 6
Hypothyroidism, Hyperthyroidism, Ovarian cyst, Thyroiditis, Goiter, Hydrocele testis, Thyroid ade... OMIM:615109
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Craniosynostosis 4
Ectopic posterior pituitary OMIM:600775
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Polycystic ovaries, Goiter, Abnormal calcium-phosphate regulating hormone level, Testicular neopl... ORPHA:457059
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Adrenal hyperplasia, Secreto... ORPHA:404
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:70
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia, Hypospadias OMIM:201710
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Mycophenolate Mofetil Embryopathy
Tracheoesophageal fistula, Agenesis of corpus callosum, Tracheomalacia ORPHA:268249
Cog2-Cdg
Secondary microcephaly, Small pituitary gland, Diffuse cerebral atrophy, Hypoplasia of the corpus... ORPHA:435934
Stuve-Wiedemann Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy... OMIM:601559