Experimental Factor Ontology

Last uploaded: September 16, 2024
Preferred Name

Meacham syndrome
Synonyms

Meacham Winn Culler syndrome

Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype

Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome

Meacham-Winn-Culler syndrome

Meacham syndrome

Definitions

Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.

ID

http://purl.obolibrary.org/obo/MONDO_0012164

database_cross_reference

UMLS:C1837026

SCTID:722461004

Orphanet:3097

OMIM:608978

MESH:C538162

MEDGEN:373234

GARD:3432

definition

Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1837026

http://www.orpha.net/ORDO/Orphanet_3097

http://identifiers.org/medgen/373234

http://identifiers.org/mesh/C538162

http://identifiers.org/snomedct/722461004

https://omim.org/entry/608978

has_exact_synonym

Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome

Meacham-Winn-Culler syndrome

Meacham syndrome

has_related_synonym

Meacham Winn Culler syndrome

Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/6878

id

MONDO:0012164

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disorder

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#nord_rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#gard_rare

http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome

label

Meacham syndrome

notation

MONDO:0012164

preferred label

Meacham syndrome

prefLabel

Meacham syndrome

subClassOf

http://purl.obolibrary.org/obo/MONDO_0020040

http://www.ebi.ac.uk/efo/EFO_0000508

http://purl.obolibrary.org/obo/MONDO_0002254

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