FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital nervous system abnormality ID (Ontology) DOID:2490 (Human Disease)
Definition
Also Known As "congenital neurologic anomaly"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 congenital nervous system abnormality       1      1
Spanning Tree (Parents/Children)
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disease
 |__physical disorder_________
disease of anatomical entity  |
 |__nervous system disease____|
                              congenital nervous system abnormality  149 rec.
                               |__anencephaly 1 rec.
                               |   |__hydranencephaly
                               |__holoprosencephaly 12 rec.
                               |   |__chromosome 1q41-q42 deletion syndrome
                               |   |__holoprosencephaly 1
                               |   |__holoprosencephaly 2 1 rec.
                               |   |__holoprosencephaly 3 1 rec.
                               |   |__holoprosencephaly 4 2 rec.
                               |   |__holoprosencephaly 5 1 rec.
                               |   |__holoprosencephaly 6
                               |   |__holoprosencephaly 7 1 rec.
                               |   |__holoprosencephaly 8
                               |   |__holoprosencephaly 9 1 rec.
                               |   |__holoprosencephaly 11 2 rec.
                               |   |__holoprosencephaly 12 1 rec.
                               |   |__Holoprosencephaly 13, X-linked 2 rec.
                               |__lissencephaly 21 rec.
                               |   |__lissencephaly 1 1 rec.
                               |   |__lissencephaly 3 4 rec.
                               |   |__lissencephaly 5 1 rec.
                               |   |__lissencephaly 7 with cerebellar hypoplasia 1 rec.
                               |   |__lissencephaly 8 2 rec.
                               |   |__lissencephaly 9 with complex brainstem malformation 1 rec.
                               |   |__lissencephaly 10
                               |   |__microlissencephaly(+) 3 rec.
                               |   |__Norman-Roberts syndrome
                               |   |__X-linked lissencephaly 1 1 rec.
                               |   |__X-linked lissencephaly 2 3 rec.
                               |__microcephaly 111 rec.
                               |   |__autosomal dominant microcephaly
                               |   |__primary microcephaly(+) 82 rec.
                               |__periventricular nodular heterotopia 3 rec.
                               |__subcortical band heterotopia 1 rec.
                               |__tubulinopathy
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Is a physical disorder
nervous system disease
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Synonyms
  • "congenital neurologic anomaly" EXACT
Secondary IDs
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ICD9CM:742
SNOMEDCT_US_2023_03_01:204018008
UMLS_CUI:C0158538