MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Spondyloepimetaphyseal dysplasia congenita, Strudwick type

ORPHA:93346Ауру
Autosomal dominant

Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type

ORPHA:642099Ауру

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

ORPHA:93360Ауру
Autosomal dominant

Spondyloepimetaphyseal dysplasia, Geneviève type

ORPHA:168454Ауру
Autosomal recessive

Spondyloepimetaphyseal dysplasia, Handigodu type

ORPHA:99642Ауру

Spondyloepimetaphyseal dysplasia, Irapa type

ORPHA:93351Ауру
Autosomal recessive

Spondyloepimetaphyseal dysplasia, Isidor-Toutain type

ORPHA:370015Ауру
Autosomal dominant

Spondyloepimetaphyseal dysplasia, Maroteaux type

ORPHA:263482Ауру
Not applicable

Spondyloepimetaphyseal dysplasia, Missouri type

ORPHA:93356Ауру
Autosomal dominant

Spondyloepimetaphyseal dysplasia, PAPSS2 type

ORPHA:93282Ауру
Autosomal recessive

Spondyloepimetaphyseal dysplasia, Shohat type

ORPHA:93352Ауру
Autosomal recessive

Spondyloepimetaphyseal dysplasia, aggrecan type

ORPHA:171866Ауру
Autosomal recessive

Spondyloepimetaphyseal dysplasia, matrilin-3 type

ORPHA:156728Ауру
Autosomal recessive

Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

ORPHA:168451Ауру

Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

ORPHA:168443Ауру

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

ORPHA:93358Ауру
Autosomal recessive

Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia

ORPHA:253Клин. топ

Spondyloepiphyseal dysplasia congenita

ORPHA:94068Ауру
Autosomal dominant

Spondyloepiphyseal dysplasia tarda

ORPHA:93284Ауру
Autosomal dominant, Autosomal recessive, X-linked recessive

Spondyloepiphyseal dysplasia tarda, Kohn type

ORPHA:163665Ауру
Autosomal recessive

Spondyloepiphyseal dysplasia with metatarsal shortening

ORPHA:137678Ауру
Autosomal dominant

Spondyloepiphyseal dysplasia, Kimberley type

ORPHA:93283Ауру
Autosomal dominant

Spondyloepiphyseal dysplasia, MacDermot type

ORPHA:163668Мальф.
Autosomal dominant

Spondyloepiphyseal dysplasia, Reardon type

ORPHA:163662Ауру
Autosomal dominant