Mondo Disease Ontology / Mondo疾病本体

Last uploaded: August 7, 2023
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Preferred Name

lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Synonyms

Meckel syndrome type 12

Meckel syndrome 12

MKS12
Definitions

Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.
ID

http://purl.obolibrary.org/obo/MONDO_0014552
database_cross_reference

Orphanet:439897

OMIM:616258

UMLS:C4015701
definition

Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.
disease has major feature

http://purl.obolibrary.org/obo/MONDO_0020022
exactMatch

http://linkedlifedata.com/resource/umls/id/C4015701

https://omim.org/entry/616258

http://purl.obolibrary.org/obo/Orphanet_439897
has_exact_synonym

Meckel syndrome type 12
has_related_synonym

Meckel syndrome 12

MKS12
id

MONDO:0014552
in_subset

http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome
label

lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
notation

MONDO:0014552
prefLabel

lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
treeView

http://purl.obolibrary.org/obo/MONDO_0015168

http://purl.obolibrary.org/obo/MONDO_0020022

http://purl.obolibrary.org/obo/MONDO_0002320

http://purl.obolibrary.org/obo/MONDO_0018921

http://purl.obolibrary.org/obo/MONDO_0015620
subClassOf

http://purl.obolibrary.org/obo/MONDO_0015168

http://purl.obolibrary.org/obo/MONDO_0020022

http://purl.obolibrary.org/obo/MONDO_0002320

http://purl.obolibrary.org/obo/MONDO_0018921

http://purl.obolibrary.org/obo/MONDO_0015620
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http://www.orpha.net/ORDO/Orphanet_439897 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM