Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Nanophthalmos

Synonyms

Nanophthalmia

Definitions

A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.

ID

http://www.orpha.net/ORDO/Orphanet_35612

alternative_term

Nanophthalmia

definition

A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35612

has_age_of_onset

Infancy

Neonatal

has_inheritance

Not applicable

Autosomal recessive

Autosomal dominant

hasDbXref

UMLS:C4274282

OMIM:609549

ICD-10:Q11.2

OMIM:615972

ICD-11:LA10.0

OMIM:613517

OMIM:600165

OMIM:611897

label

Nanophthalmos

notation

ORPHA:35612

part_of

http://www.orpha.net/ORDO/Orphanet_98631

http://www.orpha.net/ORDO/Orphanet_2542

http://www.orpha.net/ORDO/Orphanet_522520

http://www.orpha.net/ORDO/Orphanet_525677

http://www.orpha.net/ORDO/Orphanet_98683

prefixIRI

ORDO:Orphanet_35612

prefLabel

Nanophthalmos

present_in

Worldwide AND has_point_prevalence_range : Unknown

treeView

http://www.orpha.net/ORDO/Orphanet_98631

http://www.orpha.net/ORDO/Orphanet_2542

http://www.orpha.net/ORDO/Orphanet_522520

http://www.orpha.net/ORDO/Orphanet_525677

http://www.orpha.net/ORDO/Orphanet_98683

subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

http://www.orpha.net/ORDO/Orphanet_557493

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