[X] central nervous system malformation
Go to external page http://purl.obolibrary.org/obo/MONDO_0020022
Term information
- UMLS:C1839543 (MONDO:equivalentTo)
- NANDO:2200118 (https://orcid.org/0000-0003-0011-764X)
- MEDGEN:374250 (MONDO:equivalentTo)
- GARD:19394 (MONDO:GARD)
- ICD10CM:Q00-Q07 (https://orcid.org/0000-0002-4142-7153)
- MESH:D009421 (MONDO:equivalentTo)
- Orphanet:98044 (MONDO:equivalentTo)
matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, otar, disease_grouping, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_nervous_system_disorder, ordo_group_of_disorders
http://www.orpha.net/ORDO/Orphanet_98044
http://identifiers.org/mesh/D009421
http://purl.bioontology.org/ontology/ICD10CM/Q00-Q07
http://identifiers.org/medgen/374250
http://linkedlifedata.com/resource/umls/id/C1839543
Term relations
- 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