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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

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. подт.
Autosomal dominant

Intellectual disability, Buenos-Aires type

ORPHA:3079Порок

Intellectual disability, Wolff type

ORPHA:3080Порок

Intellectual disability-alacrima-achalasia syndrome

ORPHA:289483Заболевание
X-linked recessive

Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome

ORPHA:529965Порок
Autosomal dominant

Intellectual disability-balding-patella luxation-acromicria syndrome

ORPHA:3041Порок
X-linked recessive

Intellectual disability-brachydactyly-Pierre Robin syndrome

ORPHA:364577Порок

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

ORPHA:508498Порок
Autosomal dominant

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

ORPHA:3042Порок
Autosomal dominant

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

ORPHA:397709Порок
Autosomal recessive

Intellectual disability-cupped ears syndrome

ORPHA:656135Заболевание
Autosomal dominant

Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

ORPHA:3044Порок
Unknown

Intellectual disability-early-onset cataract-microcephaly syndrome

ORPHA:633035Порок

Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome

ORPHA:684232Порок
Autosomal dominant

Intellectual disability-epilepsy-extrapyramidal syndrome

ORPHA:468620Заболевание
Autosomal recessive

Intellectual disability-expressive aphasia-facial dysmorphism syndrome

ORPHA:436151Порок

Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome

ORPHA:404473Порок
Unknown

Intellectual disability-facial dysmorphism-hand anomalies syndrome

ORPHA:370010Порок
Autosomal recessive

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

ORPHA:684216Порок
Autosomal dominant, Autosomal recessive

Intellectual disability-hyperkinetic movement-truncal ataxia syndrome

ORPHA:369847Заболевание
Autosomal recessive

Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome

ORPHA:1495Порок
Autosomal recessive

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

ORPHA:314575Порок
Autosomal recessive