obsolete congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
http://purl.obolibrary.org/obo/MONDO_0018132
MONDO:0018276
OBSOLETE. Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy. [ Orphanet:352687 ]
Term info
- GARD:0012588 (MONDO:obsoleteEquivalent)
- DOID:0111229 (MONDO:obsoleteEquivalent)
- Orphanet:352687 (MONDO:obsoleteEquivalent)
gard_rare, ordo_group_of_disorders
out of scope
https://github.com/monarch-initiative/mondo/issues/3886, https://github.com/monarch-initiative/mondo/issues/4069
Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: muscular dystrophy-dystroglycanopathy'
MONDO:0018276
OBSOLETE. Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy.
http://purl.obolibrary.org/obo/DOID_0111229, http://purl.obolibrary.org/obo/Orphanet_352687
lissencephaly type 2 with muscular and ocular involvement, MDDGA
MONDO:0018132
https://rarediseases.info.nih.gov/diseases/12588/congenital-muscular-alpha-dystroglycanopathy-with-brain-and-eye-anomalies