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Diseases
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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
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