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I've recently rewritten our pipeline for build 38, but haven't collected into nf/snakemake yet. I only post this here because some pieces may be relevant, e.g. the pitfalls from slivar for not annotat…
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**Preferred term label:**
Toeing out
**Synonyms**
Duck feet, external rotated feet, Out-toeing
**Definition (free text, please give PubMed ID)**
The feet turn excessively outward when walking…
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**Preferred term label:**
Oil or lotion on the skin
**Synonyms**
Oily skin, increased oil on skin
**Definition (free text, please give PubMed ID)**
**Parent term (use hpo.jax.org/app)**
…
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**Preferred term label:**
Painless Mass
**Synonyms**
**Definition (free text, please give PubMed ID)**
https://www.ncbi.nlm.nih.gov/medgen/C1711205
**Parent term (use hpo.jax.org/app)**
…
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**Preferred term label:**
**Synonyms**
carpal spasm
**Definition (free text, please give PubMed ID)**
PMID: [28722928] Trousseau sign: After inflating a blood pressure cuff from 10 mm Hg to …
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**Preferred term label:**
Lobulated lesion
**Synonyms**
**Definition (free text, please give PubMed ID)**
Often used to describe a mammography finding
**Parent term (use hpo.jax.org/app)*…
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**Preferred term label:**
Cyst of breast
**Synonyms**
**Definition (free text, please give PubMed ID)**
https://www.ncbi.nlm.nih.gov/medgen/C0006144
**Parent term (use hpo.jax.org/app)**
…
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**Preferred term label:**
Cholecyst-enteric fistula
**Synonyms**
**Definition (free text, please give PubMed ID)**
Fistula between the gallbladder and the intestine
**Parent term (use hpo…
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**Preferred term label:**
Prolonged use of footwear
**Synonyms**
Wearing closed toe shoes for long periods
**Definition (free text, please give PubMed ID)**
**Parent term (use hpo.jax.org…
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**Preferred term label:**
Conjunctival subepithelial fibrosis
**Synonyms**
Scarring
**Definition (free text, please give PubMed ID)**
https://www.ncbi.nlm.nih.gov/medgen/C3553304
**Parent …