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

Pontocerebellar hypoplasia type 3

ORPHA:97249Мальформация
Autosomal recessive

Pontocerebellar hypoplasia type 4

ORPHA:166063Мальформация
Autosomal recessive

Pontocerebellar hypoplasia type 6

ORPHA:166073Мальформация
Autosomal recessive

Pontocerebellar hypoplasia type 7

ORPHA:284339Мальформация
Autosomal recessive

Pontocerebellar hypoplasia type 8

ORPHA:324569Мальформация
Autosomal recessive

Pontocerebellar hypoplasia type 9

ORPHA:369920Мальформация
Autosomal recessive

Porencephaly-cerebellar hypoplasia-internal malformations syndrome

ORPHA:2941Мальформация

Porencephaly-microcephaly-bilateral congenital cataract syndrome

ORPHA:306547Мальформация
Autosomal recessive

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

ORPHA:2703Мальформация

Postaxial acrofacial dysostosis

ORPHA:246Мальформация
Autosomal recessive

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

ORPHA:420584Мальформация
Autosomal dominant

Postaxial polydactyly-dental and vertebral anomalies syndrome

ORPHA:2916Мальформация

Postaxial tetramelic oligodactyly

ORPHA:2730Мальформация

Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

ORPHA:2064Мальформация
Autosomal dominant

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

ORPHA:572013Мальформация
Autosomal dominant

Potocki-Shaffer syndrome

ORPHA:52022Мальформация
Unknown

Preaxial polydactyly-colobomata-intellectual disability syndrome

ORPHA:2921Мальформация
Autosomal recessive

Primary laryngeal lymphangioma

ORPHA:137926Мальформация

Proboscis lateralis

ORPHA:141099Мальформация
Not applicable

Progeria-short stature-pigmented nevi syndrome

ORPHA:2959Мальформация
Unknown

Progressive deafness with stapes fixation

ORPHA:3235Мальформация
Autosomal recessive

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

ORPHA:477814Мальформация
Autosomal recessive

Progressive non-infectious anterior vertebral fusion

ORPHA:2062Мальформация
Not applicable

Progressive osseous heteroplasia

ORPHA:2762Мальформация
Autosomal dominant