JSON

microcephaly-albinism-digital anomalies syndrome

^ 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 ]

Term info

database cross reference
  • UMLS:C1859910 (Orphanet:2513/e)
  • SCTID:719377004 (MONDO:equivalentTo)
  • GARD:0003604 (MONDO:equivalentTo)
  • MESH:C537322 (Orphanet:2513/e)
  • Orphanet:2513 (OMIM:203340)
  • OMIM:203340 (Orphanet:2513/e)
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

https://omim.org/entry/203340, http://linkedlifedata.com/resource/umls/id/C1859910, http://identifiers.org/snomedct/719377004, http://purl.obolibrary.org/obo/Orphanet_2513, http://identifiers.org/mesh/C537322

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