JSON

septooptic dysplasia

^ http://purl.obolibrary.org/obo/MONDO_0008428

Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects. [ Orphanet:3157 ]

Term info

database cross reference
  • UMLS:C0338503 (Orphanet:3157/e)
  • MESH:D025962 (Orphanet:3157/e)
  • UMLS:C0162809 (Orphanet:3157)
  • Orphanet:3157 (OMIM:182230)
  • SCTID:7611002 (MONDO:equivalentTo)
  • DOID:0060857 (MONDO:equivalentTo)
  • MedDRA:10067159 (Orphanet:3157/e)
  • NCIT:C85063 (MONDO:equivalentTo)
  • OMIM:182230 (Orphanet:3157/e)
  • GARD:0007627 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

abbreviation
SOD [ Orphanet:3157 DOID:0060857 ]

closeMatch

http://identifiers.org/meddra/10067159

definition

Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C85063, https://omim.org/entry/182230, http://linkedlifedata.com/resource/umls/id/C0338503, http://purl.obolibrary.org/obo/Orphanet_3157, http://purl.obolibrary.org/obo/DOID_0060857, http://identifiers.org/mesh/D025962, http://identifiers.org/snomedct/7611002

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019827, http://purl.obolibrary.org/obo/MONDO_0015218, http://purl.obolibrary.org/obo/MONDO_0020145, http://purl.obolibrary.org/obo/MONDO_0015310, http://purl.obolibrary.org/obo/MONDO_0015220

has exact synonym

De Morsier syndrome, septo-optic dysplasia, septo-optic dysplasia sequence, septooptic dysplasia, SOD

has related synonym

Growth hormone deficiency with pituitary anomalies, septo-optic dysplasia spectrum, pituitary hormone deficiency, combined, 5, septo-optic dysplasia with growth hormone deficiency, hypopituitarism and septooptic 'dysplasia'

id

MONDO:0008428