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Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/D058494
http://purl.bioontology.org/ontology/MESH/D058494
|
|---|---|
| Preferred Name | Walker-Warburg Syndrome |
| Definitions |
Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development.
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| Synonyms |
COD-MD Syndrome
Muscle-Eye-Brain Diseases
Syndrome, Fktn-Related Walker-Warburg
alpha-Dystroglycanopathies
HARD Syndrome
Fukuyama Syndrome
POMT1-Related Muscle-Eye-Brain Diseases
Muscle Eye Brain Disease
Muscle-Eye-Brain Disease, POMT1-Related
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
Muscular Dystrophy, Fukuyama
Muscle Eye Brain Disease, POMT1 Related
Cerebroocular Dysplasia Muscular Dystrophy Syndrome
CMD, Fukuyama
Congenital Muscular Dystrophy Dystroglycanopathy with Brain and Eye Anomalies, Type A1
Muscle-Eye-Brain Disease
Hydrocephalus, Agyria, And Retinal Dysplasia
MEB (Muscle-Eye-Brain) Syndrome
LGMD2K
MDDGA1
Muscular Dystrophy due to Defective Glycosylation of Dystroglycan 4A
Syndrome, COD-MD
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A1
Walker Warburg Syndrome, Fktn Related
Disease, POMT1-Related Muscle-Eye-Brain
HARD Syndromes
Cerebromuscular Dystrophy, Fukuyama Type
Walker Warburg Syndrome
Syndrome, Walker-Warburg
Pagon Syndromes
COD MD Syndrome
Fukuyama Type Congenital Muscular Dystrophy
Chemke Syndrome
Syndrome, Fukuyama
Fukuyama Congenital Muscular Dystrophy
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1
Fktn-Related Walker-Warburg Syndrome
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
POMT1-Related Muscle-Eye-Brain Disease
Muscle-Eye-Brain Diseases, POMT1-Related
Syndrome, HARD
Warburg Syndrome
Fktn-Related Walker-Warburg Syndromes
COD-MD Syndromes
Dystrophy, Fukuyama Muscular
Syndrome, Pagon
Syndrome, Chemke
Fukuyama CMD
Walker-Warburg Syndrome, Fktn-Related
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation
alpha Dystroglycanopathies
Muscular Dystrophy, Congenital, Fukuyama Type
Muscular Dystrophy, Limb-Girdle, Type 2K
Syndrome, Warburg
Fukuyama Muscular Dystrophy
Pagon Syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development. |
|---|---|
| altLabel | COD-MD Syndrome
Muscle-Eye-Brain Diseases
Syndrome, Fktn-Related Walker-Warburg
alpha-Dystroglycanopathies
HARD Syndrome
Fukuyama Syndrome
POMT1-Related Muscle-Eye-Brain Diseases
Muscle Eye Brain Disease
Muscle-Eye-Brain Disease, POMT1-Related
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
Muscular Dystrophy, Fukuyama
Muscle Eye Brain Disease, POMT1 Related
Cerebroocular Dysplasia Muscular Dystrophy Syndrome
CMD, Fukuyama
Congenital Muscular Dystrophy Dystroglycanopathy with Brain and Eye Anomalies, Type A1
Muscle-Eye-Brain Disease
Hydrocephalus, Agyria, And Retinal Dysplasia
MEB (Muscle-Eye-Brain) Syndrome
LGMD2K
MDDGA1
Muscular Dystrophy due to Defective Glycosylation of Dystroglycan 4A
Syndrome, COD-MD
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A1
Walker Warburg Syndrome, Fktn Related
Disease, POMT1-Related Muscle-Eye-Brain
HARD Syndromes
Cerebromuscular Dystrophy, Fukuyama Type
Walker Warburg Syndrome
Syndrome, Walker-Warburg
Pagon Syndromes
COD MD Syndrome
Fukuyama Type Congenital Muscular Dystrophy
Chemke Syndrome
Syndrome, Fukuyama
Fukuyama Congenital Muscular Dystrophy
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1
Fktn-Related Walker-Warburg Syndrome
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
POMT1-Related Muscle-Eye-Brain Disease
Muscle-Eye-Brain Diseases, POMT1-Related
Syndrome, HARD
Warburg Syndrome
Fktn-Related Walker-Warburg Syndromes
COD-MD Syndromes
Dystrophy, Fukuyama Muscular
Syndrome, Pagon
Syndrome, Chemke
Fukuyama CMD
Walker-Warburg Syndrome, Fktn-Related
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation
alpha Dystroglycanopathies
Muscular Dystrophy, Congenital, Fukuyama Type
Muscular Dystrophy, Limb-Girdle, Type 2K
Syndrome, Warburg
Fukuyama Muscular Dystrophy
Pagon Syndrome
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| prefLabel | Walker-Warburg Syndrome
|
| Machine permutation | 2011
|
| HN | 2011
|
| Mapped from | |
| type | |
| tui | T047
|
| TERMUI |
T841469
T800820
T825809
T764487
T800818
T764484
T825808
T823416
T843040
T838791
T764481
T764485
T764479
T838793
T823415
T838789
T803489
T764480
T764483
T838792
T838788
T782129
T826321
T764482
T764486
T800817
T838790
T782128
T841468
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| TH |
OMIM (2013)
NLM (2012)
NLM (2013)
GHR (2014)
NLM (2014)
NLM (2011)
ORD (2010)
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| MMR | 20210630
|
| notation | D058494
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| Inverse of RO | |
| Semantic type UMLS property | |
| Inverse of AQ |
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| FX | D049030
|
| DX | 20110101
|
| cui |
C0410174
C2936406
C0265221
C1836373
C0457133
C4284790
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|
| DC | 1
|
| MN |
C10.500.507.450.499.249.500
C11.270.881
C16.131.666.507.450.499.249.500
C16.320.577.750
|
| AQL | BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
|
| MDA | 20100121
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |