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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Pontocerebellar hypoplasia type 3

ORPHA:97249Порок
Autosomal recessive

Pontocerebellar hypoplasia type 4

ORPHA:166063Порок
Autosomal recessive

Pontocerebellar hypoplasia type 6

ORPHA:166073Порок
Autosomal recessive

Pontocerebellar hypoplasia type 7

ORPHA:284339Порок
Autosomal recessive

Pontocerebellar hypoplasia type 8

ORPHA:324569Порок
Autosomal recessive

Pontocerebellar hypoplasia type 9

ORPHA:369920Порок
Autosomal recessive

Porencephaly-cerebellar hypoplasia-internal malformations syndrome

ORPHA:2941Порок

Porencephaly-microcephaly-bilateral congenital cataract syndrome

ORPHA:306547Порок
Autosomal recessive

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

ORPHA:2703Порок

Postaxial acrofacial dysostosis

ORPHA:246Порок
Autosomal recessive

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

ORPHA:420584Порок
Autosomal dominant

Postaxial polydactyly-dental and vertebral anomalies syndrome

ORPHA:2916Порок

Postaxial tetramelic oligodactyly

ORPHA:2730Порок

Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

ORPHA:2064Порок
Autosomal dominant

Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome

ORPHA:572013Порок
Autosomal dominant

Potocki-Shaffer syndrome

ORPHA:52022Порок
Unknown

Preaxial polydactyly-colobomata-intellectual disability syndrome

ORPHA:2921Порок
Autosomal recessive

Primary laryngeal lymphangioma

ORPHA:137926Порок

Proboscis lateralis

ORPHA:141099Порок
Not applicable

Progeria-short stature-pigmented nevi syndrome

ORPHA:2959Порок
Unknown

Progressive deafness with stapes fixation

ORPHA:3235Порок
Autosomal recessive

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

ORPHA:477814Порок
Autosomal recessive

Progressive non-infectious anterior vertebral fusion

ORPHA:2062Порок
Not applicable

Progressive osseous heteroplasia

ORPHA:2762Порок
Autosomal dominant