Experimental Factor Ontology

Last uploaded: May 15, 2024
Preferred Name

Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis

Synonyms

Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis

ABS2

osteodysgenesis, multisynostotic, with fractures

multisynostotic osteodysgenesis with long bone fractures

trapezoidocephaly-synostosis Syndrome

ID

http://purl.obolibrary.org/obo/MONDO_0020667

database_cross_reference

DOID:0081290

Orphanet:596008

OMIM:207410

GARD:22389

exactMatch

http://purl.obolibrary.org/obo/DOID_0081290

http://purl.obolibrary.org/obo/Orphanet_596008

https://omim.org/entry/207410

has_exact_synonym

Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis

has_related_synonym

ABS2

osteodysgenesis, multisynostotic, with fractures

multisynostotic osteodysgenesis with long bone fractures

trapezoidocephaly-synostosis Syndrome

id

MONDO:0020667

in_subset

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#nord_rare

http://purl.obolibrary.org/obo/mondo#ordo_clinical_subtype

http://purl.obolibrary.org/obo/mondo#gard_rare

label

Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis

notation

MONDO:0020667

prefLabel

Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis

subClassOf

http://purl.obolibrary.org/obo/MONDO_0008803

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