thanatophoric dysplasia type 1
Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly
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thanatophoric dysplasia type 1
Summary
thanatophoric dysplasia type 1 is a class of disease[1].
Key Facts
- thanatophoric dysplasia type 1's instance of is recorded as class of disease[2].
- thanatophoric dysplasia type 1's subclass of is recorded as thanatophoric dysplasia[3].
- thanatophoric dysplasia type 1's OMIM ID is recorded as 187600[4].
- thanatophoric dysplasia type 1's Orphanet ID is recorded as 1860[5].
- thanatophoric dysplasia type 1's NCI Thesaurus ID is recorded as C98583[6].
- thanatophoric dysplasia type 1's genetic association is recorded as FGFR3[7].
- thanatophoric dysplasia type 1's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1860[8].
- thanatophoric dysplasia type 1's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2655[9].
- thanatophoric dysplasia type 1's UMLS CUI is recorded as C2931282[10].
- thanatophoric dysplasia type 1's UMLS CUI is recorded as C1300256[11].
- thanatophoric dysplasia type 1's UMLS CUI is recorded as C1868678[12].
- thanatophoric dysplasia type 1's UMLS CUI is recorded as C2674173[13].
- thanatophoric dysplasia type 1's ICD-10-CM is recorded as Q77.1[14].
- thanatophoric dysplasia type 1's GARD rare disease ID is recorded as 9295[15].
- thanatophoric dysplasia type 1's Mondo ID is recorded as MONDO_0008546[16].
- thanatophoric dysplasia type 1's UniProt disease ID is recorded as DI-02363[17].