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Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер
Табылды 1,772 заболеваний (Мальф.) Қалпына келтіру

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

ORPHA:1969Мальф.
Unknown

Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy

ORPHA:708171Мальф.
Autosomal recessive

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

ORPHA:659609Мальф.
Autosomal dominant

Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome

ORPHA:598603Мальф.
Autosomal dominant

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

ORPHA:412022Мальф.
Autosomal recessive

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

ORPHA:1970Мальф.
Autosomal recessive

Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

ORPHA:314555Мальф.
Autosomal recessive

Facial dysmorphism-shawl scrotum-joint laxity syndrome

ORPHA:1778Мальф.

Faciocardiorenal syndrome

ORPHA:1973Мальф.
Autosomal recessive

Fallot complex-intellectual disability-growth delay syndrome

ORPHA:3304Мальф.
Autosomal recessive

Familial caudal dysgenesis

ORPHA:1768Мальф.
Autosomal dominant

Familial cerebral cavernous malformation

ORPHA:221061Мальф.
Autosomal dominant

Familial clubfoot with or without associated lower limb anomalies

ORPHA:199315Мальф.
Autosomal dominant

Familial digital arthropathy-brachydactyly

ORPHA:85169Мальф.
Autosomal dominant

Familial isolated café-au-lait macules

ORPHA:2678Мальф.
Autosomal dominant

Familial median cleft of the upper and lower lips

ORPHA:401942Мальф.
Unknown

Familial omphalocele syndrome with facial dysmorphism

ORPHA:280403Мальф.
Autosomal dominant

Familial osteodysplasia, Anderson type

ORPHA:2769Мальф.

Familial retinal arterial macroaneurysm

ORPHA:284247Мальф.
Autosomal recessive

Familial scaphocephaly syndrome, McGillivray type

ORPHA:168624Мальф.
Autosomal dominant

Familial vesicoureteral reflux

ORPHA:289365Мальф.
Autosomal dominant

Fanconi anemia

ORPHA:84Мальф.
Autosomal recessive, X-linked recessive

Feingold syndrome

ORPHA:1305Мальф.
Autosomal dominant

Femoral-facial syndrome

ORPHA:1988Мальф.
Not applicable