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**Preferred term label:**
traction bronchiectasis
**Synonyms**
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**Definition (free text, please give PubMed ID)**
CT findings represent irregular bronchial dilatation caused by surrounding r…
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**HPO term**
Restrictive ventilatory defect (HP:0002091)
**Reason for deprecation**
Synonym for each other, Restrictive ventilatory defect seems more like a disease than a phenotypic feature. B…
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By April 24, I am planning on having a chart shows how frequently specific risk factors were mentioned in the comm_use_subset. I am planning on doing this through python.
The risk factors I am lookin…
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**Preferred term label:**
Anti-GBM-antibody positivity
**Synonyms**
Anti-glomerular basement membrane-antibody
**Definition (free text, please give PubMed ID)**
The presence of autoantibodies…
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consider merging MONDO_0015118 'rare pulmonary disease' with MONDO_0020000 'rare respiratory disease'
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Let's finalize the qualitative data collection in this thread, and leave the other thread to the technical discussions. After finalizing, we can comm to backend team
# Data needed
## Base measur…
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These appear to be caused by mutations in different genes (i.e not trt1)
MONDO:0007485 | dyskeratosis congenita, autosomal dominant 1 | MalaCards | Rappaport N et al. (2017) | 1
MONDO:0009136 | d…
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**Preferred term label:**
Architectural desorientation
**Synonyms**
**Definition (free text, please give PubMed ID)**
Architectural distortion is characterized by abnormal displacement of br…
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**Preferred term label:**
Halo sign
**Synonyms**
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**Definition (free text, please give PubMed ID)**
CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as…
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**Preferred term label:**
Detection of anti-GM-CSF antibodies in broncho-alveolar lavage
**Synonyms**
Detection of auto-antibodies against granulocyte-macrophage colony stimulating factor (GM-CSF…