Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

amniotic band syndrome
Synonyms

Adam Complex

terminal transverse defects of arm

congenital constricting bands

Streeter anomaly

CONSTRICTING bands, congenital

familial amniotic bands

amputation, congenital

amniotic band sequence

amniotic bands sequence

congenital ring constrictions

amniotic bands

Adam syndrome

amniotic deformity-adhesion-mutilation syndrome

deformity due to amniotic band

constriction band syndrome

constriction rings syndrome

amniotic band constriction

Streeter dysplasia

Definitions

A group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies.

ID

http://purl.obolibrary.org/obo/MONDO_0015167

database_cross_reference

UMLS:C0220724

MEDGEN:66322

Orphanet:295000

NCIT:C84552

Orphanet:1034

SCTID:440214006

icd11.foundation:1033549095

MESH:D000652

OMIM:217100

GARD:429

NORD:766

definition

A group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_295000

http://identifiers.org/medgen/66322

http://purl.obolibrary.org/obo/NCIT_C84552

http://identifiers.org/mesh/D000652

http://identifiers.org/snomedct/440214006

https://omim.org/entry/217100

http://linkedlifedata.com/resource/umls/id/C0220724

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1033549095

has_exact_synonym

congenital ring constrictions

amniotic bands

Adam syndrome

amniotic deformity-adhesion-mutilation syndrome

deformity due to amniotic band

constriction band syndrome

constriction rings syndrome

amniotic band constriction

Streeter dysplasia

has_related_synonym

Adam Complex

terminal transverse defects of arm

congenital constricting bands

Streeter anomaly

CONSTRICTING bands, congenital

familial amniotic bands

amputation, congenital

amniotic band sequence

amniotic bands sequence

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/6877

https://github.com/monarch-initiative/mondo/issues/6751

https://github.com/monarch-initiative/mondo/issues/5001

id

MONDO:0015167

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#disease_grouping

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

amniotic band syndrome

notation

MONDO:0015167

preferred label

amniotic band syndrome

prefLabel

amniotic band syndrome

subClassOf

http://purl.obolibrary.org/obo/MONDO_0018230

http://purl.obolibrary.org/obo/MONDO_0018234

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