microcephaly-albinism-digital anomalies syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0008750


Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. [ Orphanet:2513 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:719377004 (MONDO:equivalentTo)
  • Orphanet:2513 (OMIM:203340)
  • ICD10:Q87.8 (Orphanet:2513)
  • GARD:0003604 (MONDO:equivalentTo)
  • OMIM:203340 (Orphanet:2513)
  • MESH:C537322 (Orphanet:2513)
  • UMLS:C1859910 (Orphanet:2513)
Subsets

gard_rare, ordo_malformation_syndrome

definition

Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1859910

http://identifiers.org/snomedct/719377004

http://identifiers.org/omim/203340

http://identifiers.org/mesh/C537322

http://www.orpha.net/ORDO/Orphanet_2513

has exact synonym

microcephaly-albinism-digital anomalies syndrome

Castro Gago-Pombo-Novo syndrome

has related synonym

albinism-microcephaly digital anomalies syndrome

albinism-microcephaly-digital anomalies syndrome

id

MONDO:0008750

seeAlso

https://rarediseases.info.nih.gov/diseases/3604/microcephaly-albinism-digital-anomalies-syndrome