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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Aniridia-cerebellar ataxia-intellectual disability syndrome

ORPHA:1065Порок
Autosomal dominant, Autosomal recessive, Not applicable

Aniridia-intellectual disability syndrome

ORPHA:1068Порок
Autosomal dominant

Aniridia-ptosis-intellectual disability-familial obesity syndrome

ORPHA:1067Порок
Autosomal dominant

Aniridia-renal agenesis-psychomotor retardation syndrome

ORPHA:1064Порок
Autosomal recessive

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

ORPHA:1071Порок
Autosomal dominant

Ankylosing vertebral hyperostosis with tylosis

ORPHA:2206Порок
Autosomal dominant

Anonychia with flexural pigmentation

ORPHA:69125Порок
Autosomal dominant

Anonychia-microcephaly syndrome

ORPHA:1094Порок
Autosomal recessive

Anophthalmia plus syndrome

ORPHA:1104Порок
Autosomal recessive

Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome

ORPHA:1101Порок
Autosomal recessive

Anophthalmia/microphthalmia-esophageal atresia syndrome

ORPHA:77298Порок
Autosomal dominant, Not applicable

Antecubital pterygium syndrome

ORPHA:2987Порок
Autosomal dominant

Anterior maxillary protrusion-strabismus-intellectual disability syndrome

ORPHA:562559Порок
Autosomal recessive

Antley-Bixler syndrome

ORPHA:83Порок
Autosomal dominant, Autosomal recessive

Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

ORPHA:1110Порок
Autosomal dominant

Apert syndrome

ORPHA:87Порок
Autosomal dominant

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

ORPHA:1112Порок
Autosomal recessive

Aphalangy-syndactyly-microcephaly syndrome

ORPHA:1113Порок
Autosomal dominant

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

ORPHA:324540Порок
Autosomal recessive

Aplasia cutis congenita

ORPHA:1114Порок
Autosomal dominant, Autosomal recessive, Not applicable

Aprosencephaly cerebellar dysgenesis

ORPHA:1126Порок

Arachnodactyly-abnormal ossification-intellectual disability syndrome

ORPHA:1129Порок
Unknown

Arachnodactyly-intellectual disability-dysmorphism syndrome

ORPHA:1130Порок
Unknown

Arterial dissection-lentiginosis syndrome

ORPHA:1682Порок
Unknown