MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
1,772 diseases matched (Malform.) Reset

Aniridia-cerebellar ataxia-intellectual disability syndrome

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

Aniridia-intellectual disability syndrome

ORPHA:1068Malform.
Autosomal dominant

Aniridia-ptosis-intellectual disability-familial obesity syndrome

ORPHA:1067Malform.
Autosomal dominant

Aniridia-renal agenesis-psychomotor retardation syndrome

ORPHA:1064Malform.
Autosomal recessive

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

ORPHA:1071Malform.
Autosomal dominant

Ankylosing vertebral hyperostosis with tylosis

ORPHA:2206Malform.
Autosomal dominant

Anonychia with flexural pigmentation

ORPHA:69125Malform.
Autosomal dominant

Anonychia-microcephaly syndrome

ORPHA:1094Malform.
Autosomal recessive

Anophthalmia plus syndrome

ORPHA:1104Malform.
Autosomal recessive

Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome

ORPHA:1101Malform.
Autosomal recessive

Anophthalmia/microphthalmia-esophageal atresia syndrome

ORPHA:77298Malform.
Autosomal dominant, Not applicable

Antecubital pterygium syndrome

ORPHA:2987Malform.
Autosomal dominant

Anterior maxillary protrusion-strabismus-intellectual disability syndrome

ORPHA:562559Malform.
Autosomal recessive

Antley-Bixler syndrome

ORPHA:83Malform.
Autosomal dominant, Autosomal recessive

Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

ORPHA:1110Malform.
Autosomal dominant

Apert syndrome

ORPHA:87Malform.
Autosomal dominant

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

ORPHA:1112Malform.
Autosomal recessive

Aphalangy-syndactyly-microcephaly syndrome

ORPHA:1113Malform.
Autosomal dominant

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

ORPHA:324540Malform.
Autosomal recessive

Aplasia cutis congenita

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

Aprosencephaly cerebellar dysgenesis

ORPHA:1126Malform.

Arachnodactyly-abnormal ossification-intellectual disability syndrome

ORPHA:1129Malform.
Unknown

Arachnodactyly-intellectual disability-dysmorphism syndrome

ORPHA:1130Malform.
Unknown

Arterial dissection-lentiginosis syndrome

ORPHA:1682Malform.
Unknown