Harmonizome 3.0

Ectodermal dysplasia 5, hair/nail type

Ectodermal dysplasia 7, hair/nail type

Ectodermal dysplasia 6, hair/nail type

Ectodermal dysplasia 8, hair/tooth/nail type

Ectodermal dysplasia-syndactyly syndrome 2

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1

ectodermal-neural cortex 1 (with BTB domain)

This gene encodes a member of the kelch-related family of actin-binding proteins. The encoded protein plays a role in the oxidative stress response as a regulator of the transcription factor Nrf2, and expression of this gene may play a role in malignant transformation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

Beukes familial hip dysplasia

Osteoarthritis, generalized, without dysplasia, susceptibility to

anal sphincter dysplasia

adrenocortical dysplasia homolog (mouse)

This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]

Spondyloepiphyseal dysplasia tarda, autosomal dominant

Acetabular dysplasia

arrhythmogenic right ventricular dysplasia 4

arrhythmogenic right ventricular dysplasia 6

arrhythmogenic right ventricular dysplasia 3

Macrocephaly with multiple epiphyseal dysplasia and distinctive facies

Developmental dysplasia of the hip 2

Nail dysplasia, isolated congenital

primary retinal dysplasia

Acropectorovertebral dysplasia (F syndrome)

asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome)

Osseous dysplasia, digital, with facial pigmentary defects and multiple frenula

mental retardation-skeletal dysplasia

torticollis, keloids, cryptorchidism and renal dysplasia

Mesomelic dysplasia, Kantaputra type

Otodental dysplasia chromosome deletion syndrome