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Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

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

Aniridia-cerebellar ataxia-intellectual disability syndrome

ORPHA:1065Мальф.
Autosomal dominant, Autosomal recessive, Not applicable

Aniridia-intellectual disability syndrome

ORPHA:1068Мальф.
Autosomal dominant

Aniridia-ptosis-intellectual disability-familial obesity syndrome

ORPHA:1067Мальф.
Autosomal dominant

Aniridia-renal agenesis-psychomotor retardation syndrome

ORPHA:1064Мальф.
Autosomal recessive

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

ORPHA:1071Мальф.
Autosomal dominant

Ankylosing vertebral hyperostosis with tylosis

ORPHA:2206Мальф.
Autosomal dominant

Anonychia with flexural pigmentation

ORPHA:69125Мальф.
Autosomal dominant

Anonychia-microcephaly syndrome

ORPHA:1094Мальф.
Autosomal recessive

Anophthalmia plus syndrome

ORPHA:1104Мальф.
Autosomal recessive

Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome

ORPHA:1101Мальф.
Autosomal recessive

Anophthalmia/microphthalmia-esophageal atresia syndrome

ORPHA:77298Мальф.
Autosomal dominant, Not applicable

Antecubital pterygium syndrome

ORPHA:2987Мальф.
Autosomal dominant

Anterior maxillary protrusion-strabismus-intellectual disability syndrome

ORPHA:562559Мальф.
Autosomal recessive

Antley-Bixler syndrome

ORPHA:83Мальф.
Autosomal dominant, Autosomal recessive

Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

ORPHA:1110Мальф.
Autosomal dominant

Apert syndrome

ORPHA:87Мальф.
Autosomal dominant

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

ORPHA:1112Мальф.
Autosomal recessive

Aphalangy-syndactyly-microcephaly syndrome

ORPHA:1113Мальф.
Autosomal dominant

Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

ORPHA:324540Мальф.
Autosomal recessive

Aplasia cutis congenita

ORPHA:1114Мальф.
Autosomal dominant, Autosomal recessive, Not applicable

Aprosencephaly cerebellar dysgenesis

ORPHA:1126Мальф.

Arachnodactyly-abnormal ossification-intellectual disability syndrome

ORPHA:1129Мальф.
Unknown

Arachnodactyly-intellectual disability-dysmorphism syndrome

ORPHA:1130Мальф.
Unknown

Arterial dissection-lentiginosis syndrome

ORPHA:1682Мальф.
Unknown