MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
1,772 diseases matched (Malform.) Reset

Tibial aplasia-ectrodactyly syndrome

ORPHA:3329Malform.
Autosomal dominant

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome

ORPHA:988Malform.
Autosomal dominant, Autosomal recessive

Tietz syndrome

ORPHA:42665Malform.
Autosomal dominant

Timothy syndrome

ORPHA:65283Malform.
Autosomal dominant

Toluene embryopathy

ORPHA:1920Malform.
Not applicable

Toriello-Carey syndrome

ORPHA:3338Malform.
Autosomal recessive

Torticollis-keloids-cryptorchidism-renal dysplasia syndrome

ORPHA:3341Malform.
X-linked dominant

Townes-Brocks syndrome

ORPHA:857Malform.
Autosomal dominant

Transketolase deficiency

ORPHA:488618Malform.
Autosomal recessive

Treacher-Collins syndrome

ORPHA:861Malform.
Autosomal dominant, Autosomal recessive

Tricho-dento-osseous syndrome

ORPHA:3352Malform.
Autosomal dominant

Tricho-retino-dento-digital syndrome

ORPHA:1264Malform.
Autosomal dominant

Trichodental syndrome

ORPHA:3351Malform.
Autosomal dominant

Trichodermodysplasia-dental alterations syndrome

ORPHA:3353Malform.

Trichodysplasia-amelogenesis imperfecta syndrome

ORPHA:79129Malform.
X-linked recessive

Trichodysplasia-xeroderma syndrome

ORPHA:3361Malform.

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

ORPHA:3363Malform.
Autosomal recessive

Trichoodontoonychial dysplasia

ORPHA:3355Malform.
Autosomal recessive

Trichorhinophalangeal syndrome type 1

ORPHA:77258Malform.
Autosomal dominant

Trichorhinophalangeal syndrome type 2

ORPHA:502Malform.
Autosomal dominant

Trigonocephaly-bifid nose-acral anomalies syndrome

ORPHA:3368Malform.
Unknown

Trigonocephaly-broad thumbs syndrome

ORPHA:3365Malform.
Autosomal dominant

Trigonocephaly-short stature-developmental delay syndrome

ORPHA:3369Malform.
Unknown

Triphalangeal thumbs-brachyectrodactyly syndrome

ORPHA:2947Malform.
Autosomal dominant