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Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер
Табылды 1,772 заболеваний (Мальф.) Қалпына келтіру

Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome

ORPHA:457395Мальф.
Autosomal recessive

Prominent glabella-microcephaly-hypogenitalism syndrome

ORPHA:2083Мальф.

Propylthiouracil embryofetopathy

ORPHA:485358Мальф.

Proteus syndrome

ORPHA:744Мальф.
Not applicable

Proximal 16p11.2 microdeletion syndrome

ORPHA:261197Мальф.
Autosomal dominant, Not applicable

Proximal 16p11.2 microduplication syndrome

ORPHA:370079Мальф.

Proximal Xq28 duplication syndrome

ORPHA:1762Мальф.

Proximal symphalangism

ORPHA:3250Мальф.
Autosomal dominant

Prune belly syndrome

ORPHA:2970Мальф.
Autosomal dominant, Not applicable, X-linked recessive

Pseudo-TORCH syndrome type 1

ORPHA:1229Мальф.
Autosomal recessive

Pseudoaminopterin syndrome

ORPHA:221120Мальф.

Pseudodiastrophic dysplasia

ORPHA:85174Мальф.
Autosomal recessive

Pseudoleprechaunism syndrome, Patterson type

ORPHA:2976Мальф.

Pseudoprogeria syndrome

ORPHA:2985Мальф.
Unknown

Pterygium colli-intellectual disability-digital anomalies syndrome

ORPHA:2988Мальф.
Autosomal dominant, X-linked dominant

Ptosis-strabismus-ectopic pupils syndrome

ORPHA:2999Мальф.
Autosomal dominant

Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome

ORPHA:228396Мальф.
Autosomal recessive

Ptosis-vocal cord paralysis syndrome

ORPHA:2997Мальф.

Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome

ORPHA:101206Мальф.

Pure hair and nail ectodermal dysplasia

ORPHA:69084Мальф.
Autosomal dominant, Autosomal recessive

Pyknoachondrogenesis

ORPHA:3003Мальф.
Autosomal recessive

Pyramidal molars-abnormal upper lip syndrome

ORPHA:2561Мальф.
Autosomal recessive

QRICH1-related intellectual disability-chondrodysplasia syndrome

ORPHA:580940Мальф.
Autosomal dominant

RAPADILINO syndrome

ORPHA:3021Мальф.
Autosomal recessive