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

Aniridia-cerebellar ataxia-intellectual disability syndrome

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

Aniridia-intellectual disability syndrome

ORPHA:1068Мальформация
Autosomal dominant

Aniridia-ptosis-intellectual disability-familial obesity syndrome

ORPHA:1067Мальформация
Autosomal dominant

Aniridia-renal agenesis-psychomotor retardation syndrome

ORPHA:1064Мальформация
Autosomal recessive

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

ORPHA:1071Мальформация
Autosomal dominant

Ankylosing vertebral hyperostosis with tylosis

ORPHA:2206Мальформация
Autosomal dominant

Anonychia with flexural pigmentation

ORPHA:69125Мальформация
Autosomal dominant

Anonychia-microcephaly syndrome

ORPHA:1094Мальформация
Autosomal recessive

Anophthalmia plus syndrome

ORPHA:1104Мальформация
Autosomal recessive

Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome

ORPHA:1101Мальформация
Autosomal recessive

Anophthalmia/microphthalmia-esophageal atresia syndrome

ORPHA:77298Мальформация
Autosomal dominant, Not applicable

Antecubital pterygium syndrome

ORPHA:2987Мальформация
Autosomal dominant

Anterior maxillary protrusion-strabismus-intellectual disability syndrome

ORPHA:562559Мальформация
Autosomal recessive

Antley-Bixler syndrome

ORPHA:83Мальформация
Autosomal dominant, Autosomal recessive

Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

ORPHA:1110Мальформация
Autosomal dominant

Apert syndrome

ORPHA:87Мальформация
Autosomal dominant

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

ORPHA:1112Мальформация
Autosomal recessive

Aphalangy-syndactyly-microcephaly syndrome

ORPHA:1113Мальформация
Autosomal dominant

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

ORPHA:324540Мальформация
Autosomal recessive

Aplasia cutis congenita

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

Aprosencephaly cerebellar dysgenesis

ORPHA:1126Мальформация

Arachnodactyly-abnormal ossification-intellectual disability syndrome

ORPHA:1129Мальформация
Unknown

Arachnodactyly-intellectual disability-dysmorphism syndrome

ORPHA:1130Мальформация
Unknown

Arterial dissection-lentiginosis syndrome

ORPHA:1682Мальформация
Unknown