monarch-initiative / mondo-ingest

Coordinating the mondo-ingest with external sources
https://monarch-initiative.github.io/mondo-ingest/
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There are a number of incomplete definitions #151

Open matentzn opened 4 years ago

matentzn commented 4 years ago

Check for example:

[Term]
id: MONDO:0014044
name: dysmorphism-conductive hearing loss-heart defect syndrome
def: "#64258;at nares, Cupid's bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability." [Orphanet:289553]
[Term]
id: MONDO:0016015
name: phenobarbital embryopathy
def: "#64257;nger hypoplasia, brachydactyly and hypospadias have been reported in rare cases." [Orphanet:1919]
[Term]
id: MONDO:0017810
name: variant ABeta2M amyloidosis
def: "#946;2M) leading to progressive gastrointestinal dysfunction, SjC6gren syndrome (see this term) and autonomic neuropathy." [Orphanet:314652]
subset: ordo_disease {source="Orphanet:314652"}
[Term]
id: MONDO:0018495
name: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
def: "#945;-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination." [Orphanet:423479]
subset: ordo_disease {source="Orphanet:423479"}
[Term]
id: MONDO:0018956
name: idiopathic bronchiectasis
def: "#160;(IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies)." [Orphanet:60033]
subset: ordo_disease {source="Orphanet:60033"}
[Term]
id: MONDO:0019450
name: lissencephaly with cerebellar hypoplasia
def: "-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F." [Orphanet:86823]
subset: ordo_group_of_disorders {source="Orphanet:86823"}
[Term]
id: MONDO:0011045
name: MMEP syndrome
def: "; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies." [Orphanet:3434]
subset: ordo_malformation_syndrome {source="Orphanet:3434"}

There are a few more but we can start with these.

matentzn commented 4 years ago

My suspicion is that during the ingest of ORDO, some definitions are cut off at weird characters.. (@cmungall)

nicolevasilevsky commented 4 years ago

yes - that is what I just commented on your PR :)

nicolevasilevsky commented 4 years ago

should I manually fix these, or can we automate this?

matentzn commented 4 years ago

Some things could also just be a bit easier... grrrr.. ;) I cant work on automating this. Just close the PR and we will work on this later this year.

nicolevasilevsky commented 4 years ago

I can work on this - I'll manually fix them, it won't take me too long.

matentzn commented 4 years ago

Lets not do that better.. There are way too many. 300...

matentzn commented 4 years ago

Or more! I will try to figure out how to build a pipeline that replaces ordo definitions with their up-to-date non broken counterparts.

nicolevasilevsky commented 4 years ago

Ok! I won't try to fix it manually then :)

nicolevasilevsky commented 4 years ago

marking as blocked, so I know this isn't something I need to do right now

matentzn commented 4 years ago

I actually unassigned you know

nicolevasilevsky commented 4 years ago

Ah, okay! I removed the label :)