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lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0014552

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. [ Orphanet:439897 ]

Synonyms: Meckel syndrome type 12

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, ordo_disorder, matrix_llm__is_cancer_other, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_included, nord_rare, rare, orphanet_rare, mondo_top_grouping_syndromic_disease, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, ordo_malformation_syndrome, mondo_top_grouping_nervous_system_disorder, harrisons_view_syndromic_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease

abbreviation
MKS12 [ MONDO:Lexical ]

exactMatch

http://www.orpha.net/ORDO/Orphanet_439897

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

http://identifiers.org/medgen/864138

https://omim.org/entry/616258

has related synonym

MKS12

Meckel syndrome 12

id

MONDO:0014552