Rare Disease Library

TARP syndrome

Pierre Robin sequence-congenital heart defect-talipes syndrome · Pierre Robin syndrome-congenital heart defect-talipes syndrome

Tarsal kink syndrome

Tarsal-carpal coalition syndrome

Tatton-Brown-Rahman syndrome

DNMT3A-related overgrowth syndrome · Tatton-Brown-Rahman overgrowth syndrome

Taurodontia-absent teeth-sparse hair syndrome

Tay-Sachs disease

Beta-hexosaminidase subunit alpha deficiency · GM2 gangliosidosis, Tay-Sachs variant

Tay-Sachs disease, adult form

GM2 gangliosidosis, Tay-Sachs variant, adult form · GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form

Tay-Sachs disease, infantile form

Beta-hexosaminidase subunit alpha deficiency, infantile form · GM2 gangliosidosis, Tay-Sachs variant, infantile form

Tay-Sachs disease, juvenile form

Beta-hexosaminidase subunit alpha deficiency, juvenile form · GM2 gangliosidosis, Tay-Sachs variant, juvenile form

TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome

TCR-alpha-beta-positive T-cell deficiency

TCR-alpha-beta+ T-cell deficiency

Teebi-Shaltout syndrome

Tel Hashomer camptodactyly syndrome

Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome

Telangiectasia macularis eruptiva perstans

Telecanthus-hypertelorism-strabismus-pes cavus syndrome

Telethonin-related limb-girdle muscular dystrophy R7

LGMD2G · Limb-girdle muscular dystrophy due to telethonin deficiency

TELO2-related intellectual disability-neurodevelopmental disorder

You-Hoover-Fong syndrome

Temperature-sensitive oculocutaneous albinism type 1

OCA1-TS · TS OCA type 1

TEMPI syndrome

Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome

Temple syndrome

Temple syndrome due to maternal uniparental disomy of chromosome 14

UPD(14)mat

Temple syndrome due to paternal 14q32.2 hypomethylation

Temple syndrome due to paternal 14q32.2 microdeletion

Paternal del(14)(q32.2)

Temple-Baraitser syndrome

Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome · TMBTS

Temporomandibular joint anomaly

Temtamy preaxial brachydactyly syndrome

Temtamy syndrome

Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome · Temtamy-Shalash syndrome

Tenosynovial giant cell tumor

TGCT · pigmented villonodular synovitis

Teratogenic Pierre Robin syndrome

Teratogenic Pierre Robin sequence

Teratoma of the central nervous system

Terminal extramedullary conus spinal cord lipoma

Terminal myelocystocele

Terminal osseous dysplasia-pigmentary defects syndrome

Terrien marginal degeneration

Tessier number 4 facial cleft

Tessier number 5 facial cleft

Tessier number 6 facial cleft

Tessier number 7 facial cleft

Commissural facial cleft · Transverse facial cleft

Testicular agenesis

Bilateral anorchia

Testicular regression syndrome

ETRS · Embryonic testicular regression syndrome

Testicular seminomatous germ cell tumor

Testicular seminoma · Seminoma of testis

Testicular teratoma

Teratoma of the testis

Tetanus

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

Tetragametic chimerism syndrome

46,XX/46,XY chimerism

Tetrahydrobiopterin-responsive phenylketonuria

BH4-responsive phenylketonuria · BH4-responsive PKU

Tetralogy of Fallot

Tetramelic monodactyly

Sommer-Hines syndrome