MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 1,772 заболеваний (Порок) Сброс

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

ORPHA:457395Порок
Autosomal recessive

Prominent glabella-microcephaly-hypogenitalism syndrome

ORPHA:2083Порок

Propylthiouracil embryofetopathy

ORPHA:485358Порок

Proteus syndrome

ORPHA:744Порок
Not applicable

Proximal 16p11.2 microdeletion syndrome

ORPHA:261197Порок
Autosomal dominant, Not applicable

Proximal 16p11.2 microduplication syndrome

ORPHA:370079Порок

Proximal Xq28 duplication syndrome

ORPHA:1762Порок

Proximal symphalangism

ORPHA:3250Порок
Autosomal dominant

Prune belly syndrome

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

Pseudo-TORCH syndrome type 1

ORPHA:1229Порок
Autosomal recessive

Pseudoaminopterin syndrome

ORPHA:221120Порок

Pseudodiastrophic dysplasia

ORPHA:85174Порок
Autosomal recessive

Pseudoleprechaunism syndrome, Patterson type

ORPHA:2976Порок

Pseudoprogeria syndrome

ORPHA:2985Порок
Unknown

Pterygium colli-intellectual disability-digital anomalies syndrome

ORPHA:2988Порок
Autosomal dominant, X-linked dominant

Ptosis-strabismus-ectopic pupils syndrome

ORPHA:2999Порок
Autosomal dominant

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

ORPHA:228396Порок
Autosomal recessive

Ptosis-vocal cord paralysis syndrome

ORPHA:2997Порок

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

ORPHA:101206Порок

Pure hair and nail ectodermal dysplasia

ORPHA:69084Порок
Autosomal dominant, Autosomal recessive

Pyknoachondrogenesis

ORPHA:3003Порок
Autosomal recessive

Pyramidal molars-abnormal upper lip syndrome

ORPHA:2561Порок
Autosomal recessive

QRICH1-related intellectual disability-chondrodysplasia syndrome

ORPHA:580940Порок
Autosomal dominant

RAPADILINO syndrome

ORPHA:3021Порок
Autosomal recessive