piere robin sequence synonym

[nlwashington]

Weissenbacher-Zweymüller syndrome has as synonyms Pierre Robin Malformation, Piere-Robin syndrome

PIERRE ROBIN SEQUENCE should be a synonym (should be coming from the OMIM file)

http://tartini.crbs.ucsd.edu/disease/OMIM:261800

also, it is odd to see that OMIM:261800 Pierre Robin Syndrome is a parent of itself (with same OMIM id) (see screenshot).

[cmungall]

Did you mean to attach an image?

Here is one:

The grey is MESH - we're conservative in how we merge, would like to drop from the merged and treat as a separate mapping

Will look into why it isn't being merged up into DO class (blue)

[cmungall]

not trivial

 DOID:4258 ! Weissenbacher-ZweymC<ller syndrome [SYNONYM: "Piere-Robin syndrome" (exact)] [SYNONYM: "Pierre Robin Malformation" (exact)]
 MESH:C535776 ! Pierre Robin syndrome with fetal chondrodysplasia
 MESH:D010855 ! Pierre Robin Syndrome
 OMIM:117650 ! Cerebro-costo-mandibular syndrome [SYNONYM: "CCMS" (exact)] [SYNONYM: "CEREBROCOSTOMANDIBULAR SYNDROME; CCMS" (exact)]
 OMIM:261800 ! Pierre Robin Syndrome [SYNONYM: "PIERRE ROBIN SYNDROME; PRBNS" (exact)] [SYNONYM: "PRBNS" (exact)]
 OMIM:277610 ! Weissenbacher- Zweymuller syndrome [SYNONYM: "Heterozygous OSMED" (exact)] [SYNONYM: "Heterozygous otospondylomegaepiphyseal dysplasia" (exact)] [SYNONYM: "Pierre Robin sequence - fetal chondrodysplasia" (exact)] [SYNONYM: "Pierre Robin syndrome - fetal chondrodysplasia" (exact)] [SYNONYM: "WEISSENBACHER-ZWEYMULLER SYNDROME; WZS" (exact)] [SYNONYM: "WZS" (exact)]
 OMIM:311895 ! Pierre Robin Sequence with Facial and Digital Anomalies [SYNONYM: "PIERRE ROBIN SEQUENCE WITH FACIAL AND DIGITAL ANOMALIES" (exact)]
 OMIM:311900 ! TARP syndrome [SYNONYM: "Pierre Robin sequence - congenital heart defect - talipes" (exact)] [SYNONYM: "Pierre Robin syndrome - congenital heart defect - talipes" (exact)] [SYNONYM: "Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava" (exact)] [SYNONYM: "TARP SYNDROME; TARPS" (exact)] [SYNONYM: "TARPS" (exact)]
 OMIM:602196 ! Pierre Robin sequence with pectus excavatum and rib and scapular anomalies [SYNONYM: "PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES" (exact)]
 Orphanet:138041 ! Pierre Robin syndrome associated with collagen disease [SYNONYM: "Pierre Robin sequence associated with collagen disease" (exact)]
 Orphanet:138044 ! Syndromic Pierre Robin syndrome
 Orphanet:138047 ! Pierre Robin syndrome associated with a chromosomal anomaly [SYNONYM: "Pierre Robin sequence associated with a chromosomal anomaly" (exact)]
 Orphanet:138050 ! Pierre Robin syndrome associated with branchial archs anomalies [SYNONYM: "Pierre Robin sequence associated with branchial archs anomalies" (exact)]
 Orphanet:138055 ! Pierre Robin syndrome associated with bone disease [SYNONYM: "Pierre Robin sequence associated with bone disease" (exact)]
 Orphanet:138059 ! Teratogenic Pierre Robin syndrome [SYNONYM: "Teratogenic Pierre Robin sequence" (exact)]
 Orphanet:138063 ! Syndrome associated with Pierre Robin syndrome [SYNONYM: "Syndrome associated with Pierre Robin sequence" (exact)]
 Orphanet:138066 ! Pierre Robin syndrome associated with miscellaneous anomalies [SYNONYM: "Pierre Robin sequence associated with miscellaneous anomalies" (exact)]
 Orphanet:1388 ! Catel-Manzke syndrome [SYNONYM: "Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome" (exact)] [SYNONYM: "Index finger anomaly - Pierre Robin syndrome" (exact)] [SYNONYM: "Micrognathia digital syndrome" (exact)] [SYNONYM: "Palatodigital syndrome, Catel-Manzke type" (exact)] [SYNONYM: "Pierre Robin sequence - hyperphalangy - clinodactyly" (exact)] [SYNONYM: "Pierre Robin syndrome - hyperphalangy - clinodactyly" (exact)]
 Orphanet:2888 ! Pierre Robin syndrome - faciodigital anomaly [SYNONYM: "Chitayat-Meunier-Hodgkinson syndrome" (exact)] [SYNONYM: "Pierre Robin sequence - faciodigital anomaly" (exact)]
 Orphanet:3102 ! Richieri Costa-Pereira syndrome [SYNONYM: "Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot" (exact)] [SYNONYM: "Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot" (exact)]
 Orphanet:3104 ! Robin sequence - oligodactyly [SYNONYM: "Pierre Robin sequence - oligodactyly" (exact)]
 Orphanet:364577 ! Intellectual disability-brachydactyly-Pierre Robin syndrome
 Orphanet:718 ! Isolated Pierre Robin syndrome [SYNONYM: "Isolated Pierre Robin sequence" (exact)]

[pnrobinson]

Minor point, but something seems to be going wrong with parsing of non ASCII chars: the "ü" in http://ghr.nlm.nih.gov/condition/weissenbacher-zweymuller-syndrome has become a "C<"
-p

Dr. med. Peter N. Robinson, MSc.
Professor of Medical Genomics
Professor in the Bioinformatics Division of the Department of Mathematics and Computer Science of the Freie Universität Berlin
Institut für Medizinische Genetik und Humangenetik
Charité - Universitätsmedizin Berlin
Augustenburger Platz 1
13353 Berlin
Germany
+4930 450566006
Mobile: 0160 93769872
peter.robinson@charite.de
http://compbio.charite.de
http://www.human-phenotype-ontology.org
Introduction to Bio-Ontologies: http://www.crcpress.com/product/isbn/9781439836651
I have learned from my mistakes, and I am sure I can repeat them exactly
ORCID ID:http://orcid.org/0000-0002-0736-9199
Scopus Author ID 7403719646
Appointment request: http://doodle.com/pnrobinson

---

Von: Chris Mungall [notifications@github.com]
Gesendet: Montag, 4. Mai 2015 07:26
An: monarch-initiative/human-disease-ontology
Betreff: Re: [human-disease-ontology] piere robin sequence synonym (#32)

not trivial

DOID:4258 ! Weissenbacher-ZweymC<ller syndrome [SYNONYM: "Piere-Robin syndrome" (exact)] [SYNONYM: "Pierre Robin Malformation" (exact)]
MESH:C535776 ! Pierre Robin syndrome with fetal chondrodysplasia
MESH:D010855 ! Pierre Robin Syndrome
OMIM:117650 ! Cerebro-costo-mandibular syndrome [SYNONYM: "CCMS" (exact)] [SYNONYM: "CEREBROCOSTOMANDIBULAR SYNDROME; CCMS" (exact)]
OMIM:261800 ! Pierre Robin Syndrome [SYNONYM: "PIERRE ROBIN SYNDROME; PRBNS" (exact)] [SYNONYM: "PRBNS" (exact)]
OMIM:277610 ! Weissenbacher- Zweymuller syndrome [SYNONYM: "Heterozygous OSMED" (exact)] [SYNONYM: "Heterozygous otospondylomegaepiphyseal dysplasia" (exact)] [SYNONYM: "Pierre Robin sequence - fetal chondrodysplasia" (exact)] [SYNONYM: "Pierre Robin syndrome - fetal chondrodysplasia" (exact)] [SYNONYM: "WEISSENBACHER-ZWEYMULLER SYNDROME; WZS" (exact)] [SYNONYM: "WZS" (exact)]
OMIM:311895 ! Pierre Robin Sequence with Facial and Digital Anomalies [SYNONYM: "PIERRE ROBIN SEQUENCE WITH FACIAL AND DIGITAL ANOMALIES" (exact)]
OMIM:311900 ! TARP syndrome [SYNONYM: "Pierre Robin sequence - congenital heart defect - talipes" (exact)] [SYNONYM: "Pierre Robin syndrome - congenital heart defect - talipes" (exact)] [SYNONYM: "Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava" (exact)] [SYNONYM: "TARP SYNDROME; TARPS" (exact)] [SYNONYM: "TARPS" (exact)]
OMIM:602196 ! Pierre Robin sequence with pectus excavatum and rib and scapular anomalies [SYNONYM: "PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES" (exact)]
Orphanet:138041 ! Pierre Robin syndrome associated with collagen disease [SYNONYM: "Pierre Robin sequence associated with collagen disease" (exact)]
Orphanet:138044 ! Syndromic Pierre Robin syndrome
Orphanet:138047 ! Pierre Robin syndrome associated with a chromosomal anomaly [SYNONYM: "Pierre Robin sequence associated with a chromosomal anomaly" (exact)]
Orphanet:138050 ! Pierre Robin syndrome associated with branchial archs anomalies [SYNONYM: "Pierre Robin sequence associated with branchial archs anomalies" (exact)]
Orphanet:138055 ! Pierre Robin syndrome associated with bone disease [SYNONYM: "Pierre Robin sequence associated with bone disease" (exact)]
Orphanet:138059 ! Teratogenic Pierre Robin syndrome [SYNONYM: "Teratogenic Pierre Robin sequence" (exact)]
Orphanet:138063 ! Syndrome associated with Pierre Robin syndrome [SYNONYM: "Syndrome associated with Pierre Robin sequence" (exact)]
Orphanet:138066 ! Pierre Robin syndrome associated with miscellaneous anomalies [SYNONYM: "Pierre Robin sequence associated with miscellaneous anomalies" (exact)]
Orphanet:1388 ! Catel-Manzke syndrome [SYNONYM: "Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome" (exact)] [SYNONYM: "Index finger anomaly - Pierre Robin syndrome" (exact)] [SYNONYM: "Micrognathia digital syndrome" (exact)] [SYNONYM: "Palatodigital syndrome, Catel-Manzke type" (exact)] [SYNONYM: "Pierre Robin sequence - hyperphalangy - clinodactyly" (exact)] [SYNONYM: "Pierre Robin syndrome - hyperphalangy - clinodactyly" (exact)]
Orphanet:2888 ! Pierre Robin syndrome - faciodigital anomaly [SYNONYM: "Chitayat-Meunier-Hodgkinson syndrome" (exact)] [SYNONYM: "Pierre Robin sequence - faciodigital anomaly" (exact)]
Orphanet:3102 ! Richieri Costa-Pereira syndrome [SYNONYM: "Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot" (exact)] [SYNONYM: "Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot" (exact)]
Orphanet:3104 ! Robin sequence - oligodactyly [SYNONYM: "Pierre Robin sequence - oligodactyly" (exact)]
Orphanet:364577 ! Intellectual disability-brachydactyly-Pierre Robin syndrome
Orphanet:718 ! Isolated Pierre Robin syndrome [SYNONYM: "Isolated Pierre Robin sequence" (exact)]

—
Reply to this email directly or view it on GitHubhttps://github.com//issues/32#issuecomment-98590461.

[nicolevasilevsky]

This issue was moved to monarch-initiative/monarch-disease-ontology-RETIRED#41