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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 …
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**Preferred term label:**
Lesions in hair
**Synonyms**
Hairs of the scalp, axillary region, trunk, thighs, groin, eyebrows, and eyelashes
**Definition (free text, please give PubMed ID)**
…
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New term request 2-ethyl-3-keto-hexanoic acid high in urine (elthat_151028072746):
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**Preferred term label:**
Toe flexion creases hypoplastic or absent
**Synonyms**
**Definition (free text, please give PubMed ID)**
UMLS has one term that is opposite:
[Deep skin creases in …
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**Preferred term label:**
transverse smile
**Synonyms**
horizontal smile
**Definition (free text, please give PubMed ID)**
Due to facial muscle weakness inability to raise the corners of the …
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**Preferred term label:**
Breast mass is rubber-like in texture or not firm
**Synonyms**
**Definition (free text, please give PubMed ID)**
**Parent term (use hpo.jax.org/app)**
**Di…
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### Label
Dyneinopathy
### Synonyms
_No response_
### Synonym type
None
### Definition
Dyneinopathy is a spectrum of disease related to monoallelic variants in DYNC1H1 and characterized by vari…
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Hi Pete,
I have an interesting case for you. Perhaps an annoying one. I accidentally ran into some variants that suddenly make me doubt the quality of the hg38 mappings using UTA.
When providing…
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New term request Long-chain 2-enoyl-CoA hydratase activity low in fibroblasts (segal_071121191708): UMLS: 2675272
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MONDO:0008661
The links to Orphanet an OMIM are not correct Orphanet:247871 (OMIM:193200)
Also, vitiligo (per se) is not a rare condition.