XK aprosencephaly
http://purl.obolibrary.org/obo/MONDO_0008811
XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance. [ Orphanet:3469 ]
Term info
- SCTID:277921008 (MONDO:equivalentTo)
- GARD:0000424 (MONDO:equivalentTo)
- MESH:C536767 (Orphanet:3469/e)
- UMLS:C0795952 (Orphanet:3469/e)
- OMIM:207770 (Orphanet:3469/e)
- Orphanet:3469 (OMIM:207770)
gard_rare, ordo_malformation_syndrome
XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.
http://identifiers.org/mesh/C536767, https://omim.org/entry/207770, http://linkedlifedata.com/resource/umls/id/C0795952, http://purl.obolibrary.org/obo/Orphanet_3469, http://identifiers.org/snomedct/277921008
XK-aprosencephaly, Garcia-Lurie syndrome
aprosencephaly syndrome, aprosencephaly-atelencephaly syndrome, atelencephaly, XK aprosencephaly syndrome, Xk syndrome, XK-aprosencephaly syndrome
MONDO:0008811
https://rarediseases.info.nih.gov/diseases/424/xk-aprosencephaly