Homo sapiens
Male
single organism
White
SD B8X3C1MX
not Hispanic or Latino
Goldenhar syndrome
2026Q3 C2M2 datapackage.zip
Kids First
Label
Description
Preauricular skin tag
A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just...
Microtia
Underdevelopment of the external ear.
Laterality
The localization with respect to the side of the body of the specified phenotypic abnormality.
Severity
The intensity or degree of a manifestation.
Limbal dermoid
A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).
Mandibular condyle hypoplasia
A Phenotype
BS M8EB0V5R
A biosample from Kids First produced as part of the SD B8X3C1MX project
5fd50728-3085-434e-954c-f141946cc5c3.ped check.csv
A file from Kids First produced from OBI:0002117 as part of the SD B8X3C1MX project
5fd50728-3085-434e-954c-f141946cc5c3.postCGP.filtered.deNovo.vep.vcf.gz
5fd50728-3085-434e-954c-f141946cc5c3.peddy.html