Experimental Factor Ontology

Last uploaded: October 15, 2024
Preferred Name

hydranencephaly
Synonyms

Hydroanencephaly

hydranencephaly (disease)

hydranencephaly

Definitions

A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor.

ID

http://purl.obolibrary.org/obo/MONDO_0016344

database_cross_reference

Orphanet:2177

NCIT:C98949

SCTID:30023002

MESH:D006832

MEDGEN:6937

icd11.foundation:1963574608

UMLS:C0020225

DOID:4626

GARD:6681

HP:0002324

NORD:1258

definition

A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor.

has_exact_synonym

hydranencephaly (disease)

hydranencephaly

has_related_synonym

Hydroanencephaly

IAO_0000589

hydranencephaly (disease)

id

MONDO:0016344

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder

label

hydranencephaly

notation

MONDO:0016344

preferred label

hydranencephaly

prefLabel

hydranencephaly

skos_exactMatch

http://identifiers.org/medgen/6937

http://identifiers.org/mesh/D006832

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1963574608

http://purl.obolibrary.org/obo/DOID_4626

http://identifiers.org/snomedct/30023002

http://linkedlifedata.com/resource/umls/id/C0020225

http://purl.obolibrary.org/obo/NCIT_C98949

http://purl.obolibrary.org/obo/Orphanet_2177

subClassOf

http://purl.obolibrary.org/obo/MONDO_0017103

http://purl.obolibrary.org/obo/MONDO_0000819

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0016344 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0016344 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0016344 DOVES SAME_URI
http://www.phoc.org.cn/pmo/class/PMO_00085547 PMAPP-PMO LOOM
http://www.orpha.net/ORDO/Orphanet_2177 ORDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/30023002 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MESH/D006832 MESH LOOM
rgo:06177 GAMUTS LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1757 IFAR LOOM
http://purl.obolibrary.org/obo/DOID_4626 DTO LOOM
http://purl.obolibrary.org/obo/DOID_4626 DOID LOOM
http://purl.obolibrary.org/obo/DOID_4626 BAO LOOM
http://purl.obolibrary.org/obo/DOID_4626 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_4626 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_4626 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_4626 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_4626 FNS-H LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hydranencephaly CSEO LOOM
http://www.limics.org/hrdo/rdfns#sgn_id_42360 HRDO LOOM
http://purl.obolibrary.org/obo/HP_0002324 HP LOOM
http://purl.obolibrary.org/obo/HP_0002324 UPHENO LOOM
http://purl.org/obo/owl/HP#HP_0002324 BDO LOOM
http://purl.bioontology.org/ontology/RCD/P234. RCD LOOM
http://purl.bioontology.org/ontology/SNMI/D4-91016 SNMI LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.500.450 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0007973 OMIT LOOM
http://purl.obolibrary.org/obo/NCIT_C98949 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98949 NCIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0020225 OCHV LOOM
http://purl.bioontology.org/ontology/LNC/LA19659-4 LOINC LOOM
http://purl.jp/bio/4/id/200906091282041091 IOBC LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU037416 OMIM LOOM
http://purl.obolibrary.org/obo/MONDO_0016344 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0016344 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0016344 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D006832 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_837 HRDO LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Hydranencephaly PEDTERM LOOM
http://purl.bioontology.org/ontology/RCTV2/P234.00 RCTV2 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.450 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#6334 OCHV LOOM
http://purl.bioontology.org/ontology/MEDDRA/10073472 MEDDRA LOOM
http://scai.fraunhofer.de/CSEO#CSEO_00000170 CSEO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_4626 NATPRO LOOM