General Information of Disease (ID: DISUI3YD)

Disease Name Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Synonyms
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly; MARCH; multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly; MARCH syndrome; hydranencephaly with renal aplasia-dysplasia
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISCPWH9: Autosomal recessive disease
DISOGTFT: Hereditary lethal multiple congenital anomalies/dysmorphic syndrome
DISUI3YD: Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Disease Identifiers
MONDO ID
MONDO_0009359
MESH ID
C565507
UMLS CUI
C1856053
OMIM ID
236500
MedGen ID
343465
Orphanet ID
500135
SNOMED CT ID
1169358003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CEP55 OTGSG2PA Strong Autosomal recessive [1]
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References

1 [Congress discussion on EEC-directives for nurses: nurses in EEC interested in the development of nursing]. Sygeplejersken. 1978 May 31;78(21):8-9.