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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

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

ORPHA:457395Malform.
Autosomal recessive

Prominent glabella-microcephaly-hypogenitalism syndrome

ORPHA:2083Malform.

Propylthiouracil embryofetopathy

ORPHA:485358Malform.

Proteus syndrome

ORPHA:744Malform.
Not applicable

Proximal 16p11.2 microdeletion syndrome

ORPHA:261197Malform.
Autosomal dominant, Not applicable

Proximal 16p11.2 microduplication syndrome

ORPHA:370079Malform.

Proximal Xq28 duplication syndrome

ORPHA:1762Malform.

Proximal symphalangism

ORPHA:3250Malform.
Autosomal dominant

Prune belly syndrome

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

Pseudo-TORCH syndrome type 1

ORPHA:1229Malform.
Autosomal recessive

Pseudoaminopterin syndrome

ORPHA:221120Malform.

Pseudodiastrophic dysplasia

ORPHA:85174Malform.
Autosomal recessive

Pseudoleprechaunism syndrome, Patterson type

ORPHA:2976Malform.

Pseudoprogeria syndrome

ORPHA:2985Malform.
Unknown

Pterygium colli-intellectual disability-digital anomalies syndrome

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

Ptosis-strabismus-ectopic pupils syndrome

ORPHA:2999Malform.
Autosomal dominant

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

ORPHA:228396Malform.
Autosomal recessive

Ptosis-vocal cord paralysis syndrome

ORPHA:2997Malform.

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

ORPHA:101206Malform.

Pure hair and nail ectodermal dysplasia

ORPHA:69084Malform.
Autosomal dominant, Autosomal recessive

Pyknoachondrogenesis

ORPHA:3003Malform.
Autosomal recessive

Pyramidal molars-abnormal upper lip syndrome

ORPHA:2561Malform.
Autosomal recessive

QRICH1-related intellectual disability-chondrodysplasia syndrome

ORPHA:580940Malform.
Autosomal dominant

RAPADILINO syndrome

ORPHA:3021Malform.
Autosomal recessive