Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

7 matching diseasesClear search ×

Thanatophoric dysplasia

TD

ORPHA:2655

Thanatophoric dysplasia type 1

TD1 · Thanatophoric dwarfism type 1

ORPHA:1860

Thanatophoric dysplasia type 2

Cloverleaf skull-micromelic bone dysplasia syndrome · TD2

ORPHA:93274

Tricho-dento-osseous syndrome

TDO syndrome

ORPHA:3352

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins

ORPHA:217371

OBSOLETE: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

ORPHA:404440

SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome

ORPHA:597743