MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Takenouchi-Kosaki syndrome

ORPHA:487796Malform.
Autosomal dominant

Tako-Tsubo cardiomyopathy

ORPHA:66529Disease
Unknown

Talaromycosis

ORPHA:697053Disease
Not applicable

Tall stature-intellectual disability-renal anomalies syndrome

ORPHA:500095Malform.
Autosomal recessive

Tall stature-long halluces-multiple extra-epiphyses syndrome

ORPHA:329191Disease
Autosomal dominant

Talo-patello-scaphoid osteolysis

ORPHA:50809Malform.
Autosomal recessive

Tangier disease

ORPHA:31150Disease
Autosomal recessive

Tarsal-carpal coalition syndrome

ORPHA:1412Malform.
Autosomal dominant

Tatton-Brown-Rahman syndrome

ORPHA:404443Malform.
Autosomal dominant

Tay-Sachs disease

ORPHA:845Disease
Autosomal recessive

Tay-Sachs disease, adult form

ORPHA:309192Clin. sub.
Autosomal recessive

Tay-Sachs disease, infantile form

ORPHA:309178Clin. sub.
Autosomal recessive

Tay-Sachs disease, juvenile form

ORPHA:309185Clin. sub.
Autosomal recessive

Teebi-Shaltout syndrome

ORPHA:3291Malform.
Autosomal recessive

Tel Hashomer camptodactyly syndrome

ORPHA:3292Malform.
Unknown

Telangiectasia macularis eruptiva perstans

ORPHA:90389Clin. sub.
Unknown

Telecanthus-hypertelorism-strabismus-pes cavus syndrome

ORPHA:3293Malform.
Unknown

Telethonin-related limb-girdle muscular dystrophy R7

ORPHA:34514Disease
Autosomal recessive

Temperature-sensitive oculocutaneous albinism type 1

ORPHA:352737Clin. sub.
Autosomal recessive

Temple syndrome

ORPHA:254516Malform.
Autosomal dominant, Not applicable

Temple syndrome due to maternal uniparental disomy of chromosome 14

ORPHA:96184Etio. sub.

Temple syndrome due to paternal 14q32.2 hypomethylation

ORPHA:254531Etio. sub.
Autosomal dominant, Not applicable

Temple syndrome due to paternal 14q32.2 microdeletion

ORPHA:254525Etio. sub.
Autosomal dominant, Not applicable

Temple-Baraitser syndrome

ORPHA:420561Disease
Autosomal dominant