Cell Culture Ontology

Last uploaded: July 23, 2014
Preferred Name

syndromic microphthalmia
Synonyms

microphthalmia, syndromic

syndromic microphthalmia

syndrome associated with microphthalmia

Definitions

A microphthalmia that is part of a larger syndrome.

ID

http://purl.obolibrary.org/obo/MONDO_0016073

database_cross_reference

OMIMPS:309800

MEDGEN:1826052

UMLS:C5679782

DOID:0080636

Orphanet:202948

GARD:20342

definition

A microphthalmia that is part of a larger syndrome.

has_exact_synonym

microphthalmia, syndromic

syndromic microphthalmia

syndrome associated with microphthalmia

id

MONDO:0016073

in_subset

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

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

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

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping

label

syndromic microphthalmia

notation

MONDO:0016073

preferred label

syndromic microphthalmia

prefLabel

syndromic microphthalmia

skos_exactMatch

http://identifiers.org/medgen/1826052

http://linkedlifedata.com/resource/umls/id/C5679782

http://purl.obolibrary.org/obo/Orphanet_202948

https://omim.org/phenotypicSeries/PS309800

http://purl.obolibrary.org/obo/DOID_0080636

subClassOf

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

http://www.ebi.ac.uk/efo/EFO_0005569

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

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