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anonychia-microcephaly syndrome

^ http://purl.obolibrary.org/obo/MONDO_0011795

Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth. [ Orphanet:1094 ]

Term info

database cross reference
  • SCTID:720494009 (MONDO:equivalentTo)
  • Orphanet:1094 (OMIM:607214)
  • OMIM:607214 (Orphanet:1094/e)
  • GARD:0000709 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

definition

Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_1094, http://identifiers.org/snomedct/720494009, https://omim.org/entry/607214

has exact synonym

Teebi-Kaurah syndrome

has related synonym

anonychia total with microcephaly, total anonychia with microcephaly, total anonychia congenita and microcephaly, anonychia, total, with microcephaly

id

MONDO:0011795

seeAlso

https://rarediseases.info.nih.gov/diseases/709/anonychia-total-with-microcephaly