MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Isolated cerebellar vermis agenesis

ORPHA:269203Morph.

Isolated childhood apraxia of speech

ORPHA:209908Disease
Autosomal dominant

Isolated cleft lip

ORPHA:199302Morph.
Multigenic/multifactorial

Isolated colonic duplication

ORPHA:662392Morph.
Not applicable

Isolated complex I deficiency

ORPHA:2609Disease
Autosomal recessive, Mitochondrial inheritance, X-linked dominant

Isolated complex III deficiency

ORPHA:1460Disease
Autosomal recessive, Mitochondrial inheritance

Isolated congenital adermatoglyphia

ORPHA:289465Disease
Autosomal dominant

Isolated congenital alacrima

ORPHA:91416Disease
Autosomal dominant, Autosomal recessive

Isolated congenital anonychia

ORPHA:79143Disease
Autosomal dominant, Autosomal recessive

Isolated congenital anosmia

ORPHA:88620Disease
Autosomal dominant, X-linked recessive

Isolated congenital breast hypoplasia/aplasia

ORPHA:180188Morph.
Autosomal recessive

Isolated congenital cholesteatoma of the middle ear

ORPHA:686556Morph.
Unknown

Isolated congenital hepatic fibrosis

ORPHA:485426Disease

Isolated congenital hypoglossia/aglossia

ORPHA:141152Morph.

Isolated congenital hypogonadotropic hypogonadism

ORPHA:238666Disease
Autosomal dominant, Autosomal recessive, Oligogenic, Unknown, X-linked recessive

Isolated congenital laryngeal web

ORPHA:2374Malform.

Isolated congenital megalocornea

ORPHA:91489Morph.
X-linked recessive

Isolated congenital microcephaly

ORPHA:199642Malform.

Isolated congenital nasal pyriform aperture stenosis

ORPHA:162516Malform.

Isolated congenital onychodysplasia

ORPHA:79144Disease

Isolated congenital sclerocornea

ORPHA:91490Morph.
Autosomal dominant

Isolated congenital syngnathia

ORPHA:141214Malform.

Isolated congenitally uncorrected transposition of the great arteries

ORPHA:216718Clin. sub.
Multigenic/multifactorial, Not applicable

Isolated corpus callosum agenesis

ORPHA:200Morph.
Not applicable