Preferred Name

PRUNE BELLY SYNDROME

Synonyms

ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM

ID

http://purl.bioontology.org/ontology/OMIM/100100

altLabel

ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM

EAGLE-BARRETT SYNDROME

EGBRS

PBS

cui

C0033770

Gene Locus

1q43

Gene Symbol

CHRM3

EGBRS

PBS

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU066981

http://purl.bioontology.org/ontology/OMIM/MTHU026698

http://purl.bioontology.org/ontology/OMIM/MTHU001907

http://purl.bioontology.org/ontology/OMIM/MTHU001611

http://purl.bioontology.org/ontology/OMIM/MTHU007610

http://purl.bioontology.org/ontology/OMIM/MTHU036335

http://purl.bioontology.org/ontology/OMIM/MTHU026695

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU065098

http://purl.bioontology.org/ontology/OMIM/MTHU066982

http://purl.bioontology.org/ontology/OMIM/MTHU066980

http://purl.bioontology.org/ontology/OMIM/MTHU030565

http://purl.bioontology.org/ontology/OMIM/MTHU058168

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

100100

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

PRUNE BELLY SYNDROME

Scope Statement

Distended bladder and hydronephrosis may be detected prenatally [MISCELLANEOUS]

Affected individuals are symptomatic from birth [MISCELLANEOUS]

Caused by mutation in the muscarinic cholinergic receptor-3 gene (CHRM3, 118494.0001) [MOLECULAR BASIS]

tui

T047

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Delete Mapping To Ontology Source
http://purl.bmicc.cn/ontology/ICD11CN/LD2F.10 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/ICD10/Q79.4 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/ICD10/Q79.4 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85033 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://www.orpha.net/ORDO/Orphanet_2970 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007032 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007032 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bmicc.cn/ontology/ICD10CN/Q79.4 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.obolibrary.org/obo/DOID_0060889 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D011535 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D011535 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q79.4 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q79.4 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 LOOM