Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
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Abnormalities, Multiple (D000015)
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Ectromelia (D004480)
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Lung Diseases (D008171)
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Tetra-amelia with pulmonary hypoplasia (C536499)

       Child Nodes:



 Sister Nodes: 
..expand46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
..expandAcute Chest Syndrome (D056586)
..expandalpha 1-Antitrypsin Deficiency (D019896) Child1
..expandalpha-2-Macroglobulin Deficiency (C566304)
..expandAnophthalmia with pulmonary hypoplasia (C537768)
..expandCystic Adenomatoid Malformation of Lung, Congenital (D015615)
..expandCystic Disease Of Lung (C563237)
..expandCystic Fibrosis (D003550) Child4
..expandHemoptysis (D006469)
..expandHepatopulmonary Syndrome (D020065)
..expandHypertension, Pulmonary (D006976) Child12
..expandIdiopathic pulmonary hemosiderosis (C536281)
..expandKashani Strom Utley syndrome (C537010)
..expandLung Abscess (D008169)
..expandLung agenesis (C537725)
..expandLung Diseases, Fungal (D008172) Child5
..expandLung Diseases, Interstitial (D017563) Child39
..expandLung Diseases, Obstructive (D008173) Child34
..expandLung Diseases, Parasitic (D008174) Child1
..expandLung Injury (D055370) Child20
..expandLung Neoplasms (D008175) Child17
..expandLung, Hyperlucent (D019568)
..expandLymphangiectasia, pulmonary, congenital (C537727)
..expandPlasma Cell Granuloma, Pulmonary (D016726)
..expandPneumonia (D011014) Child16
..expandPulmonary Alveolar Microlithiasis (C562405)
..expandPulmonary Alveolar Proteinosis (D011649) Child7
..expandPulmonary Atelectasis (D001261) Child1
..expandPulmonary Edema (D011654) Child1
..expandPulmonary Embolism (D011655) Child3
..expandPulmonary Eosinophilia (D011657) Child1
..expandPulmonary Fibrosis (D011658) Child2
..expandPULMONARY FUNCTION (OMIM:608852)
..expandPulmonary Hypoplasia, Primary (C562992)
..expandPulmonary Veno-Occlusive Disease (D011668)
..expandRapidly progressive glomerulonephritis with pulmonary hemorrhage (C538458)
..expandRespiratory Distress Syndrome, Adult (D012128)
..expandRespiratory Distress Syndrome, Newborn (D012127) Child9
..expandScimitar Syndrome (D012587) Child1
..expandSolitary Pulmonary Nodule (D003074)
..expandTetra-amelia with pulmonary hypoplasia (C536499)
..expandTuberculosis, Pulmonary (D014397) Child1
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10943
Name:Tetra-amelia with pulmonary hypoplasia
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D004480|MESH:D008171
TreeNumbers:C05.660.585.350/C536499 |C08.381/C536499 |C16.131.077/C536499 |C16.131.621.585.350/C536499
Synonyms:Absence of upper and lower limbs with pulmonary hypoplasia |Syndrome of tetraamelia with pulmonary hypoplasia
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Respiratory tract disease
Reference: MedGen: C536499
MeSH: C536499
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants