MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы
Найдено 303 заболеваний (Morph.) Сброс

Isolated distal symphalangism

ORPHA:3248Morph.
Autosomal dominant

Isolated female hypospadias

ORPHA:603515Morph.

Isolated femoral agenesis/hypoplasia

ORPHA:1987Morph.

Isolated fibular hemimelia

ORPHA:93323Morph.
Not applicable

Isolated gallbladder duplication

ORPHA:662388Morph.
Not applicable

Isolated gastric duplication

ORPHA:662376Morph.
Not applicable

Isolated geographic pattern capillary malformation

ORPHA:715345Morph.
Not applicable

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 left bronchial isomerism

ORPHA:649029Morph.

Isolated multiple intestinal atresia

ORPHA:2300Morph.
Autosomal recessive

Isolated nail clubbing

ORPHA:217059Morph.
Autosomal dominant, Autosomal recessive

Isolated optic nerve aplasia

ORPHA:637064Morph.

Isolated optic nerve hypoplasia

ORPHA:637061Morph.

Isolated partial vaginal agenesis

ORPHA:96269Morph.

Isolated patella aplasia/hypoplasia

ORPHA:86789Morph.
Autosomal dominant

Isolated posterior meningocele

ORPHA:268810Morph.
Multigenic/multifactorial, Not applicable

Isolated proximal femoral focal deficiency

ORPHA:633228Morph.

Isolated pyloric duplication

ORPHA:662405Morph.
Not applicable

Isolated radial hemimelia

ORPHA:93321Morph.
Multigenic/multifactorial, X-linked recessive

Isolated radio-ulnar synostosis

ORPHA:3269Morph.
Unknown