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**Preferred term label:**
**Synonyms**
**Definition (free text, please give PubMed ID)**
PMID: 32644615 Symptoms of autonomic dysfunction in nutcracker syndrome are rare but include hypoten…
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**Preferred term label:**
Delta brush pattern on EEG
**Synonyms**
Periodic high amplitude slow waves with superimposed fast activity
**Definition (free text, please give PubMed ID)**
**Pa…
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**Preferred term label:**
History of vaginal douching
**Synonyms**
**Definition (free text, please give PubMed ID)**
**Parent term (use hpo.jax.org/app)**
**Diseases characterized b…
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**Preferred term label:**
Fungal infection of hair
**Synonyms**
**Definition (free text, please give PubMed ID)**
**Parent term (use hpo.jax.org/app)**
**Diseases characterized by t…
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**Preferred term label:**
Hair follicle inflammation
**Synonyms**
**Definition (free text, please give PubMed ID)**
**Parent term (use hpo.jax.org/app)**
**Diseases characterized by…
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**Preferred term label:**
Incus ankylosis
**Synonyms**
Incus fixation
**Definition (free text, please give PubMed ID)**
Incus ankylosis refers to congenital or acquired fixation of the incus,…
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**Preferred term label:**
Whorled appearance on breast biopsy
**Synonyms**
**Definition (free text, please give PubMed ID)**
**Parent term (use hpo.jax.org/app)**
**Diseases charact…
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**predicted protein descriptions:** compare the predicted protein descriptions for https://v2.mutalyzer.nl/name-checker?description=%09NM_001204398.1%3Ac.268_288dup and https://mutalyzer.nl/normalizer…
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**Preferred term label:**
hemorrhagic gastroenteritis
**Synonyms**
bacterial hemorrhagic enterocolitis
**Definition (free text, please give PubMed ID)**
https://www.healthline.com/health/acut…
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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…