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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер
Табылды 3,968 заболеваний (Ауру) Қалпына келтіру

Inherited epidermodysplasia verruciformis

ORPHA:302Ауру
Autosomal recessive

Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

ORPHA:289548Ауру
Autosomal recessive

Inherited isolated arrhythmogenic cardiomyopathy

ORPHA:217656Ауру
Autosomal dominant

Insulin autoimmune syndrome

ORPHA:411593Ауру
Not applicable

Insulin-resistance syndrome type A

ORPHA:2297Ауру
Autosomal dominant, Autosomal recessive

Insulin-resistance syndrome type B

ORPHA:2298Ауру
Not applicable

Insulinoma

ORPHA:97279Ауру
Not applicable

Intellectual disability-alacrima-achalasia syndrome

ORPHA:289483Ауру
X-linked recessive

Intellectual disability-cupped ears syndrome

ORPHA:656135Ауру
Autosomal dominant

Intellectual disability-epilepsy-extrapyramidal syndrome

ORPHA:468620Ауру
Autosomal recessive

Intellectual disability-hyperkinetic movement-truncal ataxia syndrome

ORPHA:369847Ауру
Autosomal recessive

Intellectual disability-myopathy-short stature-endocrine defect syndrome

ORPHA:3068Ауру

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

ORPHA:352530Ауру
Autosomal recessive

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

ORPHA:397973Ауру
Autosomal recessive

Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome

ORPHA:513456Ауру
Autosomal dominant

Intellectual disability-seizures-macrocephaly-obesity syndrome

ORPHA:369950Ауру
Not applicable, Unknown

Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome

ORPHA:662829Ауру
Autosomal dominant

Intellectual disability-strabismus syndrome

ORPHA:363528Ауру
Autosomal recessive

Interdigitating dendritic cell sarcoma

ORPHA:86900Ауру

Intermediate DEND syndrome

ORPHA:99989Ауру
Autosomal dominant, Autosomal recessive, Not applicable

Intermediate collagen VI-related muscular dystrophy

ORPHA:646113Ауру
Autosomal dominant, Autosomal recessive

Intermediate epidermolysis bullosa simplex with cardiomyopathy

ORPHA:508529Ауру
Autosomal dominant

Intermediate generalized junctional epidermolysis bullosa

ORPHA:79402Ауру
Autosomal recessive

Intermediate nemaline myopathy

ORPHA:171433Ауру
Autosomal dominant, Autosomal recessive