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**Mondo term (ID and Label)**
MONDO:0035474 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
**Reason for deprecation**
Appears to be the same concept as OMIM:616843…
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omim.ttl has classes which have multiple rdfs:label annotations, such as:
```
ORPHA:118231 a owl:Class ;
rdfs:label "Capillary malformation-arteriovenous malformation",
"Parkes Weber…
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Please add an entry for OMIM:619719
INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS
Mouse model in PMID:37154692
label: intellectual disability and myopathy syndrome
Synonym: IDMYS (acr…
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@LCCarmody
We need this for the Tyrosinaemia type I example
see - https://pubmed.ncbi.nlm.nih.gov/9728331/ and other OMIM entries
suggested def
Treatment with any member of a group of drugs t…
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While compiling omim with Ubuntu Xenial 16.04, I got this error:
```
clang++ -c -pipe -stdlib=libc++ -fdata-sections -ffunction-sections -O3 -ffast-math -g -fPIC -std=c++11 -Wall -W -Wno-sign-compare…
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**Mondo term (ID and Label)**
MONDO:0035383 FOXG1 syndrome
**Reason for deprecation**
GeneReviews uses FOXG1 syndrome as their preferred name for this chapter: https://www.ncbi.nlm.nih.gov/books/…
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before we had [OMIM ID](http://edamontology.org/data_1153) and [HGNC ID](http://edamontology.org/data_2298), now you substituted HGNC ID with something broader [Gene ID](http://edamontology.org/data_2…
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For example:
https://www.ncbi.nlm.nih.gov/clinvar/variation/722/ - NAT2 variant and OMIM:243400 (Slow Acetylation)
We could pull these in if there is an associated OMIM or medgen identifier.
Pr…
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Intro: see intro section of https://github.com/biothings/BioThings_Explorer_TRAPI/issues/583#issue-1622873383. Originally noted in https://github.com/biothings/BioThings_Explorer_TRAPI/issues/558#issu…
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### Mondo term
developmental and epileptic encephalopathy, 31
### Synonyms
developmental and epileptic encephalopathy-31A (DEE31A), DNM1-Related Epilepsy and Neurodevelopmental Disorder
### Synony…