ecwood
commented
2 months ago Running
match (n) where n.provided_by contains "infores:ordo" return n.id, n.name limit 50on KG2.10.1pre returns
| n.id | n.name |
|---|---|
| "OBO:ordo.owl" | "ORPHANET Rare Disease Ontology v4.3" |
| "orphanet:88630" | "Terminal osseous dysplasia - pigmentary defects" |
| "orphanet:88632" | "Familial ocular anterior segment mesenchymal dysgenesis" |
| "orphanet:88635" | "Vacuolar myopathy with sarcoplasmic reticulum protein aggregates" |
| "orphanet:88637" | "Hypomyelination - hypogonadotropic hypogonadism - hypodontia" |
| "orphanet:88639" | "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency" |
| "orphanet:88642" | "Channelopathy-associated congenital insensitivity to pain" |
| "orphanet:88643" | "Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay" |
| "orphanet:88644" | "Autosomal recessive ataxia, Beauce type" |
| "orphanet:88659" | "Autosomal dominant progressive nephropathy with hypertension" |
| "orphanet:88660" | "Hypertension due to gain-of-function mutations in the mineralocorticoid receptor" |
| "orphanet:88661" | "Amelogenesis imperfecta" |
| "orphanet:887" | "VACTERL/VATER association" |
| "orphanet:888" | "Van der Woude syndrome" |
| "orphanet:88917" | "X-linked Alport syndrome" |
| "orphanet:88918" | "Autosomal dominant Alport syndrome" |
| "orphanet:88919" | "Autosomal recessive Alport syndrome" |
| "orphanet:88924" | "Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis" |
| "orphanet:88938" | "Pseudohypoaldosteronism type 2A" |
| "orphanet:88939" | "Pseudohypoaldosteronism type 2B" |
| "orphanet:88940" | "Pseudohypoaldosteronism type 2C" |
| "orphanet:88949" | "MUC1-related autosomal dominant tubulointerstitial kidney disease" |
| "orphanet:88950" | "Autosomal dominant medullary cystic kidney disease with hyperuricemia" |
| "orphanet:88993" | "Esophageal malformation" |
| "orphanet:891" | "Familial exudative vitreoretinopathy" |
| "orphanet:892" | "Von Hippel-Lindau disease" |
| "orphanet:893" | "WAGR syndrome" |
| "orphanet:894" | "Waardenburg syndrome type 1" |
| "orphanet:895" | "Waardenburg syndrome type 2" |
| "orphanet:896" | "Waardenburg syndrome type 3" |
| "orphanet:897" | "Waardenburg-Shah syndrome" |
| "orphanet:898" | "Wagner disease" |
| "orphanet:89838" | "KRT14-related epidermolysis bullosa simplex" |
| "orphanet:401874" | "Fatal multiple mitochondrial dysfunction syndrome type 2" |
| "orphanet:401901" | "Huntington disease-like syndrome due to C9ORF72 expansions" |
| "orphanet:401911" | "AXIN2-related attenuated familial adenomatous polyposis" |
| "orphanet:401923" | "9q31.1q31.3 microdeletion syndrome" |
| "orphanet:401935" | "14q24.1q24.3 microdeletion syndrome" |
| "orphanet:401942" | "Familial median cleft of the upper and lower lips" |
| "orphanet:401945" | "Moyamoya disease with early-onset achalasia" |
| "orphanet:401948" | "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency" |
| "orphanet:401953" | "Episodic ataxia with slurred speech" |
| "orphanet:401959" | "Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome" |
| "orphanet:401964" | "Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons" |
| "orphanet:401973" | "MEND syndrome" |
| "orphanet:401979" | "Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type" |
| "orphanet:401986" | "1p31p32 microdeletion syndrome" |
| "orphanet:401993" | "Cold-induced sweating syndrome-hyperthermia spectrum" |
| "orphanet:401996" | "Karyomegalic interstitial nephritis" |
| "orphanet:402003" | "Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering" |
which confirms this fix. Closing this issue
From Amy:
This appears to be the case in Biolink as well: https://github.com/biolink/biolink-model/blob/master/biolink-model.yaml#L111