MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 1,772 заболеваний (Мальформация)Сбросить

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

ORPHA:457395Мальформация
Autosomal recessive

Prominent glabella-microcephaly-hypogenitalism syndrome

ORPHA:2083Мальформация

Propylthiouracil embryofetopathy

ORPHA:485358Мальформация

Proteus syndrome

ORPHA:744Мальформация
Not applicable

Proximal 16p11.2 microdeletion syndrome

ORPHA:261197Мальформация
Autosomal dominant, Not applicable

Proximal 16p11.2 microduplication syndrome

ORPHA:370079Мальформация

Proximal Xq28 duplication syndrome

ORPHA:1762Мальформация

Proximal symphalangism

ORPHA:3250Мальформация
Autosomal dominant

Prune belly syndrome

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

Pseudo-TORCH syndrome type 1

ORPHA:1229Мальформация
Autosomal recessive

Pseudoaminopterin syndrome

ORPHA:221120Мальформация

Pseudodiastrophic dysplasia

ORPHA:85174Мальформация
Autosomal recessive

Pseudoleprechaunism syndrome, Patterson type

ORPHA:2976Мальформация

Pseudoprogeria syndrome

ORPHA:2985Мальформация
Unknown

Pterygium colli-intellectual disability-digital anomalies syndrome

ORPHA:2988Мальформация
Autosomal dominant, X-linked dominant

Ptosis-strabismus-ectopic pupils syndrome

ORPHA:2999Мальформация
Autosomal dominant

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

ORPHA:228396Мальформация
Autosomal recessive

Ptosis-vocal cord paralysis syndrome

ORPHA:2997Мальформация

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

ORPHA:101206Мальформация

Pure hair and nail ectodermal dysplasia

ORPHA:69084Мальформация
Autosomal dominant, Autosomal recessive

Pyknoachondrogenesis

ORPHA:3003Мальформация
Autosomal recessive

Pyramidal molars-abnormal upper lip syndrome

ORPHA:2561Мальформация
Autosomal recessive

QRICH1-related intellectual disability-chondrodysplasia syndrome

ORPHA:580940Мальформация
Autosomal dominant

RAPADILINO syndrome

ORPHA:3021Мальформация
Autosomal recessive