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7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер
Табылды 1,772 заболеваний (Мальф.) Қалпына келтіру

Pontocerebellar hypoplasia type 3

ORPHA:97249Мальф.
Autosomal recessive

Pontocerebellar hypoplasia type 4

ORPHA:166063Мальф.
Autosomal recessive

Pontocerebellar hypoplasia type 6

ORPHA:166073Мальф.
Autosomal recessive

Pontocerebellar hypoplasia type 7

ORPHA:284339Мальф.
Autosomal recessive

Pontocerebellar hypoplasia type 8

ORPHA:324569Мальф.
Autosomal recessive

Pontocerebellar hypoplasia type 9

ORPHA:369920Мальф.
Autosomal recessive

Porencephaly-cerebellar hypoplasia-internal malformations syndrome

ORPHA:2941Мальф.

Porencephaly-microcephaly-bilateral congenital cataract syndrome

ORPHA:306547Мальф.
Autosomal recessive

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

ORPHA:2703Мальф.

Postaxial acrofacial dysostosis

ORPHA:246Мальф.
Autosomal recessive

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

ORPHA:420584Мальф.
Autosomal dominant

Postaxial polydactyly-dental and vertebral anomalies syndrome

ORPHA:2916Мальф.

Postaxial tetramelic oligodactyly

ORPHA:2730Мальф.

Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

ORPHA:2064Мальф.
Autosomal dominant

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

ORPHA:572013Мальф.
Autosomal dominant

Potocki-Shaffer syndrome

ORPHA:52022Мальф.
Unknown

Preaxial polydactyly-colobomata-intellectual disability syndrome

ORPHA:2921Мальф.
Autosomal recessive

Primary laryngeal lymphangioma

ORPHA:137926Мальф.

Proboscis lateralis

ORPHA:141099Мальф.
Not applicable

Progeria-short stature-pigmented nevi syndrome

ORPHA:2959Мальф.
Unknown

Progressive deafness with stapes fixation

ORPHA:3235Мальф.
Autosomal recessive

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

ORPHA:477814Мальф.
Autosomal recessive

Progressive non-infectious anterior vertebral fusion

ORPHA:2062Мальф.
Not applicable

Progressive osseous heteroplasia

ORPHA:2762Мальф.
Autosomal dominant