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

EEM syndrome

ORPHA:1897Malform.
Autosomal recessive

EN1-related dorsoventral syndrome

ORPHA:611223Malform.

EPHB4-related capillary malformation-arteriovenous malformation

ORPHA:693912Malform.
Autosomal dominant

EVEN-plus syndrome

ORPHA:496751Malform.
Autosomal recessive

Ear-patella-short stature syndrome

ORPHA:2554Malform.
Autosomal dominant, Autosomal recessive

Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome

ORPHA:411986Malform.
Autosomal recessive

Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

ORPHA:496641Malform.
Autosomal recessive

Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome

ORPHA:500144Malform.
Autosomal recessive

Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome

ORPHA:505237Malform.
Autosomal recessive

Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth

ORPHA:708036Malform.
Autosomal recessive

Ectodermal dysplasia with natal teeth, Turnpenny type

ORPHA:69083Malform.
Autosomal dominant

Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples

ORPHA:708043Malform.
Autosomal dominant

Ectodermal dysplasia, trichoodontoonychial type

ORPHA:1818Malform.

Ectodermal dysplasia-blindness syndrome

ORPHA:1806Malform.
Autosomal recessive

Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome

ORPHA:247827Malform.
Autosomal recessive

Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

ORPHA:1812Malform.
X-linked recessive

Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment

ORPHA:708014Malform.

Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome

ORPHA:247820Malform.
Autosomal recessive

Ectodermal dysplasia-sensorineural deafness syndrome

ORPHA:1883Malform.
Autosomal recessive

Ectrodactyly-polydactyly syndrome

ORPHA:1892Malform.

Edinburgh malformation syndrome

ORPHA:1895Malform.
Unknown

Eiken syndrome

ORPHA:79106Malform.
Autosomal recessive

Eisenmenger syndrome

ORPHA:97214Malform.
Not applicable

Ellis Van Creveld syndrome

ORPHA:289Malform.
Autosomal recessive