MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Insulin-resistance syndrome type B

ORPHA:2298Заболевание
Not applicable

Insulinoma

ORPHA:97279Заболевание
Not applicable

Intellectual disability syndrome due to a DYRK1A point mutation

ORPHA:464311Этиол. подтип
Autosomal dominant

Intellectual disability, Buenos-Aires type

ORPHA:3079Мальформация

Intellectual disability, Wolff type

ORPHA:3080Мальформация

Intellectual disability-alacrima-achalasia syndrome

ORPHA:289483Заболевание
X-linked recessive

Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome

ORPHA:529965Мальформация
Autosomal dominant

Intellectual disability-balding-patella luxation-acromicria syndrome

ORPHA:3041Мальформация
X-linked recessive

Intellectual disability-brachydactyly-Pierre Robin syndrome

ORPHA:364577Мальформация

Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome

ORPHA:508498Мальформация
Autosomal dominant

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

ORPHA:3042Мальформация
Autosomal dominant

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

ORPHA:397709Мальформация
Autosomal recessive

Intellectual disability-cupped ears syndrome

ORPHA:656135Заболевание
Autosomal dominant

Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

ORPHA:3044Мальформация
Unknown

Intellectual disability-early-onset cataract-microcephaly syndrome

ORPHA:633035Мальформация

Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome

ORPHA:684232Мальформация
Autosomal dominant

Intellectual disability-epilepsy-extrapyramidal syndrome

ORPHA:468620Заболевание
Autosomal recessive

Intellectual disability-expressive aphasia-facial dysmorphism syndrome

ORPHA:436151Мальформация

Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome

ORPHA:404473Мальформация
Unknown

Intellectual disability-facial dysmorphism-hand anomalies syndrome

ORPHA:370010Мальформация
Autosomal recessive

Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome

ORPHA:684216Мальформация
Autosomal dominant, Autosomal recessive

Intellectual disability-hyperkinetic movement-truncal ataxia syndrome

ORPHA:369847Заболевание
Autosomal recessive

Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome

ORPHA:1495Мальформация
Autosomal recessive

Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome

ORPHA:314575Мальформация
Autosomal recessive