central nervous system malformation
Go to external page http://purl.obolibrary.org/obo/MONDO_0020022
This is just here as a test because I lose it
Term information
database
cross reference
- ICD10CM:Q00-Q07 (https://orcid.org/0000-0002-4142-7153)
- MEDGEN:374250 (MONDO:equivalentTo)
- UMLS:C1839543 (MONDO:equivalentTo)
- MESH:D009421 (MONDO:equivalentTo)
- GARD:19394 (MONDO:GARD)
- Orphanet:98044 (MONDO:equivalentTo)
- NANDO:2200118 (https://orcid.org/0000-0003-0011-764X)
Subsets
gard_rare, otar, disease_grouping, rare, ordo_group_of_disorders
exactMatch
http://www.orpha.net/ORDO/Orphanet_98044
http://identifiers.org/mesh/D009421
http://identifiers.org/medgen/374250
http://purl.bioontology.org/ontology/ICD10CM/Q00-Q07
http://linkedlifedata.com/resource/umls/id/C1839543
Term relations
Subclass of:
Related from:
disease has major feature
- Gomez-Lopez-Hernandez syndrome
- B4GALT1-congenital disorder of glycosylation
- glycosylphosphatidylinositol biosynthesis defect 15
- PHACE syndrome
- spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
- Ritscher-Schinzel syndrome
- NPHP3-related Meckel-like syndrome
- congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
- childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
- Dandy-Walker malformation-postaxial polydactyly syndrome
- orofaciodigital syndrome type 6
- syndromic X-linked intellectual disability Najm type
- cervical hypertrichosis-peripheral neuropathy syndrome
- X-linked intellectual disability-cerebellar hypoplasia syndrome
- syndromic X-linked intellectual disability 5
- Joubert syndrome with oculorenal defect
- X-linked cerebral-cerebellar-coloboma syndrome syndrome
- Lhermitte-Duclos disease
- ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
- lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
- cerebellar-facial-dental syndrome
- autosomal recessive spinocerebellar ataxia 20
- severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
- SLC39A8-CDG
- TELO2-related intellectual disability-neurodevelopmental disorder
- tubulinopathy-associated dysgyria
- X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
- global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
- Hoyeraal-Hreidarsson syndrome
- partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
- hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
- craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
- Aase-Smith syndrome
- permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
- Joubert syndrome with renal defect
- Joubert syndrome with ocular defect
- macrocephaly-short stature-paraplegia syndrome