Diseases

Name Orphanumber Description XREF(s)
Thanatophoric dysplasia type 1 1860 A form of thanatophoric dysplasia… Orphanet, OMIM, ICD-10
Thanatophoric dysplasia type 2 93274 A form of thanatophoric dysplasia… Orphanet, ICD-10, OMIM, OMIM
Thiamine-responsive encephalopathy 199348 Thiamine-responsive encephalopathy is a… Orphanet, OMIM, ICD-10
Thiamine-responsive maple syrup urine disease 268184 Thiamine-responsive maple syrup urine… Orphanet, ICD-10, OMIM
Thiamine-responsive megaloblastic anemia syndrome 49827 Thiamine-responsive megaloblastic… Orphanet, MeSH, ICD-10, OMIM
Thiel-Behnke corneal dystrophy 98960 Thiel-Behnke corneal dystrophy (TBCD)… Orphanet, ICD-10, MeSH, OMIM
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 363444 A rare, autosomal recessive, syndromic… Orphanet, ICD-10, OMIM
Thomsen and Becker disease 614 A rare, genetic, skeletal muscle… Orphanet, MedDRA, MedDRA, ICD-10, OMIM, OMIM
Thoracolumbosacral spina bifida cystica 268752 Orphanet
Thoracolumbosacral spina bifida aperta 268384 Orphanet
Thrombocythemia with distal limb defects 329319 Thrombocythemia with distal limb… Orphanet
Thrombocytopenia with congenital dyserythropoietic anemia 67044 Thrombocytopenia with congenital… Orphanet, OMIM, ICD-10
Thrombocytopenia-absent radius syndrome 3320 Thrombocytopenia-absent radius (TAR)… Orphanet, MedDRA, OMIM, ICD-10
Thrombomodulin-related bleeding disorder 436169 A rare genetic coagulation disorder… Orphanet, OMIM, ICD-10
Thyroid ectopia 95712 Thyroid ectopia is a form of thyroid… Orphanet, ICD-10, OMIM, OMIM
Thyroid hypoplasia 95720 Thyroid hypoplasia is a form of thyroid… Orphanet, OMIM, OMIM, MedDRA, ICD-10
Thyrotoxic periodic paralysis 79102 Thyrotoxic periodic paralysis (TPP) is… Orphanet, OMIM, OMIM, OMIM, MedDRA, ICD-10
Tibial aplasia-ectrodactyly syndrome 3329 Tibial aplasia-ectrodactyly syndrome is… Orphanet, OMIM, OMIM, OMIM, ICD-10
Tibial hemimelia 93322 A rare congenital limb formation… Orphanet, ICD-10, OMIM
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome 988 Tibial hemimelia-polysyndactyly-… Orphanet, OMIM, MeSH, ICD-10