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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Non-syndromic rectourethral fistula

ORPHA:600961Morph.

Non-syndromic rectovaginal fistula

ORPHA:601028Morph.

Non-syndromic rectovesical fistula

ORPHA:600984Morph.

Non-syndromic sagittal craniosynostosis

ORPHA:35093Morph.
Autosomal dominant, Not applicable

Non-syndromic unicoronal and sagittal craniosynostosis

ORPHA:620186Morph.

Non-syndromic unicoronal craniosynostosis

ORPHA:620102Morph.

Non-syndromic unifrontosphenoidal craniosynostosis

ORPHA:620139Morph.

Non-syndromic unilambdoid craniosynostosis

ORPHA:620113Morph.

Non-syndromic unisquamosal craniosynostosis

ORPHA:620146Morph.

Non-syndromic vestibular fistula

ORPHA:600993Morph.

Oligodontia

ORPHA:99798Morph.
Autosomal dominant, Autosomal recessive, X-linked recessive

Oligomeganephronia

ORPHA:2260Morph.
Multigenic/multifactorial

Omphalocele

ORPHA:660Morph.
Not applicable

Open spinal dysraphism with a myelomeningocele

ORPHA:93969Morph.
Multigenic/multifactorial, Not applicable

Paramedian nasal cleft

ORPHA:141242Morph.

Paraspinal arteriovenous malformation

ORPHA:715331Morph.
Not applicable

Partial atrioventricular septal defect

ORPHA:1330Morph.
Not applicable

Partial pancreatic agenesis

ORPHA:2805Morph.
Autosomal recessive

Patent urachus

ORPHA:431341Morph.
Not applicable

Pelvic arteriovenous malformation

ORPHA:714715Morph.
Not applicable

Penile agenesis

ORPHA:49Morph.

Penoscrotal transposition

ORPHA:2842Morph.
Autosomal recessive, Not applicable, X-linked recessive

Peters anomaly

ORPHA:708Morph.
Autosomal dominant, Autosomal recessive

Pituitary stalk interruption syndrome

ORPHA:95496Morph.
Autosomal dominant, Autosomal recessive, Not applicable