Akaba Hayasaka syndrome

http://purl.obolibrary.org/obo/MONDO_0021834

A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia. [ PMID:8989469 https://orcid.org/0000-0001-5208-3432 ]

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Term history

Term info

database cross reference

UMLS:C2930948 (MONDO:equivalentTo)
MESH:C535609 (MONDO:equivalentTo)
GARD:0000577 (MONDO:equivalentTo)

Subsets

gard_rare

definition

A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia.

exactMatch

http://identifiers.org/mesh/C535609, http://linkedlifedata.com/resource/umls/id/C2930948

has related synonym

frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia

MONDO:0021834

seeAlso

https://rarediseases.info.nih.gov/diseases/577/akaba-hayasaka-syndrome

Term relations

Subclass of:

osteochondrodysplasia