MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Isolated generalized anhidrosis with normal sweat glands

ORPHA:468666Disease
Autosomal recessive

Isolated geographic pattern capillary malformation

ORPHA:715345Morph.
Not applicable

Isolated glycerol kinase deficiency

ORPHA:408Disease
X-linked recessive

Isolated growth hormone deficiency type IA

ORPHA:231662Clin. sub.
Autosomal recessive

Isolated growth hormone deficiency type IB

ORPHA:231671Clin. sub.
Autosomal recessive

Isolated growth hormone deficiency type II

ORPHA:231679Clin. sub.
Autosomal dominant

Isolated growth hormone deficiency type III

ORPHA:231692Clin. sub.
X-linked recessive

Isolated growth hormone deficiency type IV

ORPHA:684247Clin. sub.
Autosomal recessive

Isolated hemihyperplasia

ORPHA:2128Morph.
Autosomal dominant

Isolated hereditary congenital facial paralysis

ORPHA:306527Morph.
Autosomal dominant, Autosomal recessive

Isolated humero-radial synostosis

ORPHA:3265Morph.
Autosomal dominant, Autosomal recessive

Isolated humero-radio-ulnar synostosis

ORPHA:3266Morph.
Unknown

Isolated humero-ulnar synostosis

ORPHA:94056Morph.
Not applicable

Isolated hyperchlorhidrosis

ORPHA:542657Disease
Autosomal recessive

Isolated jejuno-ileal duplication

ORPHA:662480Clin. sub.
Not applicable

Isolated left bronchial isomerism

ORPHA:649029Morph.

Isolated lissencephaly type 1 without known genetic defects

ORPHA:1084Disease
Unknown

Isolated megalencephaly

ORPHA:2477Malform.
Autosomal recessive

Isolated melanotic schwannoma

ORPHA:590539Disease

Isolated mesenteric vein thrombosis

ORPHA:583861Disease

Isolated micronodular adrenocortical disease

ORPHA:647782Disease

Isolated microphthalmia-anophthalmia-coloboma

ORPHA:2542Clin. grp.
Autosomal dominant, Autosomal recessive, X-linked recessive

Isolated multiple intestinal atresia

ORPHA:2300Morph.
Autosomal recessive

Isolated nail clubbing

ORPHA:217059Morph.
Autosomal dominant, Autosomal recessive