MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Woolly hair nevus

ORPHA:79414Disease
Not applicable

Woolly hair-palmoplantar keratoderma syndrome

ORPHA:420686Disease
Autosomal recessive

Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

ORPHA:166277Malform.
Unknown

Wormian bones-micrognathia-abnormal dentition-progeroid syndrome

ORPHA:659873Malform.
Autosomal dominant

Worster-Drought syndrome

ORPHA:3465Disease
Autosomal dominant, Not applicable

Wound botulism

ORPHA:178475Etio. sub.

Wound myiasis

ORPHA:165955Disease
Not applicable

Wrinkly skin syndrome

ORPHA:2834Clin. sub.
Autosomal recessive

X small rings syndrome

ORPHA:96201Malform.

X-linked Alport syndrome

ORPHA:88917Clin. sub.
X-linked dominant

X-linked Alport syndrome-diffuse leiomyomatosis

ORPHA:1018Clin. sub.
X-linked dominant

X-linked Charcot-Marie-Tooth disease

ORPHA:64747Clin. grp.
X-linked dominant, X-linked recessive

X-linked Charcot-Marie-Tooth disease type 1

ORPHA:101075Disease
X-linked dominant

X-linked Charcot-Marie-Tooth disease type 2

ORPHA:101076Disease
X-linked recessive

X-linked Charcot-Marie-Tooth disease type 3

ORPHA:101077Disease
X-linked recessive

X-linked Charcot-Marie-Tooth disease type 4

ORPHA:101078Disease
X-linked recessive

X-linked Charcot-Marie-Tooth disease type 5

ORPHA:99014Disease
X-linked recessive

X-linked Charcot-Marie-Tooth disease type 6

ORPHA:352675Disease
X-linked dominant

X-linked Ehlers-Danlos syndrome

ORPHA:75497Disease
X-linked recessive

X-linked Emery-Dreifuss muscular dystrophy

ORPHA:98863Etio. sub.
X-linked recessive

X-linked acrogigantism

ORPHA:300373Disease
X-linked dominant

X-linked adrenal hypoplasia congenita

ORPHA:95702Disease
X-linked recessive

X-linked adrenoleukodystrophy

ORPHA:43Disease
X-linked dominant

X-linked agammaglobulinemia

ORPHA:47Clin. sub.
X-linked recessive