Human Disease Ontology

Last uploaded: May 1, 2024
Preferred Name

Beemer-Langer syndrome

Synonyms

type IV short rib polydactyly syndrome

Definitions

A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. OMIM mapping confirmed by DO. [LS].

ID

http://purl.obolibrary.org/obo/DOID_9249

comment

OMIM mapping confirmed by DO. [LS].

database_cross_reference

UMLS_CUI:C0432198

SNOMEDCT_US_2023_03_01:254052001

MESH:C537599

OMIM:269860

definition

A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly.

has exact synonym

type IV short rib polydactyly syndrome

has_obo_namespace

disease_ontology

id

DOID:9249

label

Beemer-Langer syndrome

notation

DOID:9249

prefLabel

Beemer-Langer syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_225

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