Craniometadiaphyseal/craniometaphyseal dysplasia, Schwartz-Lelek syndrome

[cmungall]

Something happened in the latest build and these became unmerged.

[cmungall]

I think a simple syn addition to DO will help link things. Presumably metaphyseal=metadiaphyseal?

[cmungall]

cc @sbello, do we need more DCs here?

this looks complicated based on yr comments:

[Term]
id: OMIM:269300
name: Craniometadiaphyseal Dysplasia; CRMDD
alt_id: OMIM:615118
comment: OMIM obsoleted 615118 and moved this to 269300 then renamed 269300 to what 615118 was called and did not retain as a synonym the old name of 269300. I merged these and swapped the name and synonym to retain the information - smb.
synonym: "Schwartz-Lelek Syndrome" EXACT []
is_a: DC:0000138 ! Disease Cluster

[cmungall]

Here is unprocessed ORDO just for comparison. I don't really understand the upper classifications. But looking at the leaves, seems they treat cr.metadiaphyseal diff from cr/metaphyseal? Or is this just an artefact of their classification? argh.

[pnrobinson]

of course, metaphyseal is not in general a synonym of metadiaphyseal, and at least in OMIM the "metadia" variant is taken consistently.

Dr. med. Peter N. Robinson, MSc.
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---

Von: Chris Mungall [notifications@github.com]
Gesendet: Montag, 6. April 2015 17:59
An: monarch-initiative/human-disease-ontology
Betreff: Re: [human-disease-ontology] Craniometadiaphyseal/craniometaphyseal dysplasia, Schwartz-Lelek syndrome (#27)

I think a simple syn addition to DO will help link things. Presumably metaphyseal=metadiaphyseal?

�
Reply to this email directly or view it on GitHubhttps://github.com//issues/27#issuecomment-90124240.

[sbello]

The OMIM description of 269300 (CRMDD) indicates that this is a distinct
disorder from CMDR (214800):
" Langer et al. (1991) called this condition craniometadiaphyseal
dysplasia, wormian bone type, and distinguished it from craniometaphyseal
dysplasia (see CMDR, 218400 http://www.omim.org/entry/218400). Although
after infancy, the long tubular bones appear the same in both disorders,
the skull changes of CRMDD, e.g., thin bone in the superior part of the
calvaria and prominent wormian bones, are not present in CMDR. The short
tubular bones are strikingly different in the 2 disorders. In infants with
CMDR, the diaphyses of the long tubular bones are sclerotic, but the
modeling is normal."
I think we are okay in terms of the cluster terms. CMDR has 3 types (218400,
123000, 3rd type does not have an OMIM entry) and has a cluster term
(DC:0000507). CRMDD has 1 type and does not have a cluster term.
Sue

On Mon, Apr 6, 2015 at 11:59 AM, Chris Mungall notifications@github.com
wrote:

I think a simple syn addition to DO will help link things. Presumably
metaphyseal=metadiaphyseal?

—
Reply to this email directly or view it on GitHub
#27 (comment)
.

[cmungall]

Thx. Will file DO ticket

[nicolevasilevsky]

This issue was moved to monarch-initiative/monarch-disease-ontology-RETIRED#36